Exomiser Analysis Results for Anonymous
Analysis Settings
Settings used for this analysis:
---
sample:
genomeAssembly: "hg38"
vcf: "/mnt/storage_pool/Genomics/VarXOmics/examples/P00110_11/P00110_11_vep_annotated.biallelic.vcf.gz"
hpoIds:
- "HP:0003002"
- "HP:0006625"
pedigree: {}
age: {}
analysis:
inheritanceModes:
AUTOSOMAL_RECESSIVE_COMP_HET: 2.0
MITOCHONDRIAL: 0.2
AUTOSOMAL_RECESSIVE_HOM_ALT: 0.1
X_DOMINANT: 0.1
AUTOSOMAL_DOMINANT: 0.1
X_RECESSIVE_COMP_HET: 2.0
X_RECESSIVE_HOM_ALT: 0.1
frequencySources:
- "UK10K"
- "GNOMAD_E_AFR"
- "GNOMAD_E_AMR"
- "GNOMAD_E_EAS"
- "GNOMAD_E_NFE"
- "GNOMAD_E_SAS"
- "GNOMAD_G_AFR"
- "GNOMAD_G_AMR"
- "GNOMAD_G_EAS"
- "GNOMAD_G_NFE"
- "GNOMAD_G_SAS"
pathogenicitySources:
- "REMM"
steps:
- hiPhivePrioritiser:
runParams: "human, mouse, fish, ppi"
- priorityScoreFilter:
priorityType: "HIPHIVE_PRIORITY"
minPriorityScore: 0.501
- failedVariantFilter: {}
- genePanelFilter:
geneSymbols:
- "PERM1"
- "KIF1B"
- "MTHFR"
- "TNFRSF1B"
- "DHRS3"
- "PRAMEF18"
- "NBPF1"
- "DDOST"
- "HSPG2"
- "CRYBG2"
- "FCN3"
- "SMPDL3B"
- "EPB41"
- "GJB3"
- "CDCA8"
- "MPL"
- "MMACHC"
- "PCSK9"
- "HOOK1"
- "GBP1"
- "DPYD"
- "DBT"
- "COL11A1"
- "PTPN22"
- "ANXA9"
- "TUFT1"
- "HRNR"
- "FLG"
- "SPRR2E"
- "TPM3"
- "SPTA1"
- "KCNJ9"
- "PEX19"
- "F5"
- "QSOX1"
- "HMCN1"
- "CDC73"
- "CFH"
- "LAMB3"
- "RD3"
- "PACC1"
- "TATDN3"
- "FLVCR1"
- "RAB3GAP2"
- "ITPKB"
- "MTR"
- "RYR2"
- "FH"
- "NLRP3"
- "EIPR1"
- "ZNF513"
- "SLC3A1"
- "MCFD2"
- "MSH2"
- "NRXN1"
- "PNO1"
- "ANXA4"
- "GGCX"
- "CHST10"
- "IL36RN"
- "GLI2"
- "BIN1"
- "LOC124908048"
- "ZEB2"
- "NEB"
- "TANC1"
- "SCN2A"
- "SCN9A"
- "SCN7A"
- "LRP2"
- "HOXD10"
- "HOXD3"
- "AGPS"
- "TTN"
- "STAT1"
- "CCDC150"
- "NDUFS1"
- "FASTKD2"
- "PLEKHM3"
- "CFAP65"
- "SPEG"
- "OBSL1"
- "COL4A3"
- "CHRNG"
- "UGT1A10"
- "GAL3ST2"
- "ITPR1"
- "CAV3"
- "VHL"
- "RAF1"
- "NUP210"
- "EOMES"
- "ACVR2B"
- "SLC25A38"
- "VIPR1"
- "SLC6A20"
- "ALS2CL"
- "KIF9"
- "LAMB2"
- "DNAH12"
- "FLNB"
- "CLDND1"
- "ZPLD1"
- "CCDC191"
- "ZBTB20"
- "GPR156"
- "PCCB"
- "CPA3"
- "HPS3"
- "IFT80"
- "SLC2A2"
- "MUC4"
- "LOC112268458"
- "LOC124900647"
- "CFAP99"
- "SH3BP2"
- "HTT"
- "WFS1"
- "SORCS2"
- "SH3TC1"
- "DRD5"
- "TLR1"
- "SRD5A3"
- "AMBN"
- "STBD1"
- "ARHGAP24"
- "FAM13A"
- "SNCA"
- "BMPR1B"
- "SLC9B1"
- "EGF"
- "MFSD8"
- "RAB33B"
- "FHIP1A"
- "TLR2"
- "FNIP2"
- "PALLD"
- "AGA"
- "CCT5"
- "DNAH5"
- "TRIO"
- "LIFR"
- "CARD6"
- "ITGA2"
- "ANKRD55"
- "PDE4D"
- "GFM2"
- "PDE8B"
- "VCAN"
- "MEF2C"
- "WDR36"
- "HSD17B4"
- "ALDH7A1"
- "MEGF10"
- "UQCRQ"
- "LECT2"
- "TGFBI"
- "KLHL3"
- "HSPA9"
- "PURA"
- "PCDHB3"
- "DIAPH1"
- "SH3TC2"
- "PDE6A"
- "PDGFRB"
- "SLU7"
- "ATP10B"
- "SH3PXD2B"
- "FGFR4"
- "WRNIP1"
- "F13A1"
- "DSP"
- "DTNBP1"
- "NUP153"
- "ALDH5A1"
- "H3C2"
- "C6orf136"
- "VARS2"
- "MSH5"
- "TNXB"
- "HLA-DRB5"
- "HLA-DRB1"
- "COL11A2"
- "ITPR3"
- "SPDEF"
- "LHFPL5"
- "PEX6"
- "TFAP2B"
- "EYS"
- "COL12A1"
- "LOC105377864"
- "LAMA4"
- "LAMA2"
- "ENPP1"
- "IL20RA"
- "TNFAIP3"
- "STX11"
- "EPM2A"
- "CCDC170"
- "SYNE1"
- "ARID1B"
- "SOD2"
- "PRR18"
- "TBP"
- "TMEM184A"
- "CRPPA"
- "DNAH11"
- "GARS1"
- "URGCP"
- "LOC124901648"
- "LOC124901651"
- "AUTS2"
- "NCF1"
- "SEMA3A"
- "MTERF1"
- "PEX1"
- "DYNC1I1"
- "RASA4B"
- "RELN"
- "SLC26A4"
- "FOXP2"
- "CFTR"
- "PAX4"
- "LEP"
- "BRAF"
- "MRPS33"
- "MGAM2"
- "CLCN1"
- "ARHGEF34P"
- "PRKAG2"
- "EN2"
- "OR4F21"
- "CSMD1"
- "MCPH1"
- "LOC128966594"
- "FAM90A19"
- "GATA4"
- "CHMP7"
- "ESCO2"
- "KCNU1"
- "FGFR1"
- "PRKDC"
- "CHD7"
- "TTPA"
- "CYP7B1"
- "EYA1"
- "GDAP1"
- "ZBTB10"
- "PDP1"
- "CFAP418"
- "POP1"
- "CSMD3"
- "TRPS1"
- "TG"
- "DENND3"
- "TOP1MT"
- "PLEC"
- "WASHC1"
- "VLDLR"
- "BRD10"
- "MPDZ"
- "SLC24A2"
- "CDKN2B"
- "TOPORS"
- "B4GALT1"
- "MYORG"
- "GALT"
- "RMRP"
- "GNE"
- "ZBTB5"
- "CNTNAP3"
- "LOC107987067"
- "SPATA31D1"
- "TGFBR1"
- "INVS"
- "FKTN"
- "TMEM38B"
- "SLC31A2"
- "CDK5RAP2"
- "LMX1B"
- "CRAT"
- "C9orf78"
- "ADAMTSL2"
- "VAV2"
- "NOTCH1"
- "FBXW5"
- "NDOR1"
- "GATA3"
- "PTF1A"
- "MYO3A"
- "RET"
- "ANKRD30BP3"
- "AGAP4"
- "SHLD2P1"
- "UNC5B"
- "CDH23"
- "VCL"
- "ZMIZ1"
- "NRG3"
- "PAPSS2"
- "PTEN"
- "ANKRD1"
- "FFAR4"
- "TM9SF3"
- "ENTPD7"
- "TWNK"
- "POLL"
- "CALHM2"
- "ADRA2A"
- "INPP5F"
- "TACC2"
- "ACADSB"
- "PTPRE"
- "PAOX"
- "ANO9"
- "MUC6"
- "MUC2"
- "INS"
- "TPP1"
- "NUCB2"
- "KCNJ11"
- "ABCC8"
- "CSRP3-AS1"
- "HTATIP2"
- "ANO5"
- "PAX6"
- "WT1"
- "MADD"
- "OR8H3"
- "ZDHHC5"
- "GLYATL1"
- "LTBP3"
- "KLC2"
- "BBS1"
- "ACTN3"
- "SPTBN2"
- "CABP4"
- "KCNE3"
- "CAPN5"
- "MYO7A"
- "FZD4"
- "MMP1"
- "CASP1"
- "ALG9"
- "CEP164"
- "MFRP"
- "ROBO3"
- "CDON"
- "KCNJ5"
- "IQSEC3"
- "VWF"
- "ATN1"
- "PEX5"
- "SLCO1B1"
- "DNM1L"
- "MUC19"
- "PRICKLE1"
- "VDR"
- "MMP19"
- "ERBB3"
- "PAN2"
- "ARHGAP9"
- "MARS1"
- "GRIP1"
- "CNOT2"
- "TMPO"
- "SLC17A8"
- "IGF1"
- "WASHC4"
- "MMAB"
- "TBX3"
- "HNF1A"
- "LOC105370092"
- "MUC8"
- "ANKLE2"
- "GOLGA3"
- "BRCA2"
- "SMAD9"
- "FREM2"
- "DHRS12"
- "SLITRK1"
- "LOC124903229"
- "MIR17HG"
- "LOC105377805"
- "TEP1"
- "IPO4"
- "NUBPL"
- "FANCM"
- "VCPKMT"
- "BMP4"
- "GCH1"
- "DACT1"
- "ADAM21"
- "DNAL1"
- "ESRRB"
- "CEP128"
- "ATXN3"
- "DICER1"
- "HHIPL1"
- "TDRD9"
- "AHNAK2"
- "LOC105370714"
- "LOC102724737"
- "MAGEL2"
- "UBE3A"
- "GOLGA8R"
- "OTUD7A"
- "PLA2G4D"
- "STARD9"
- "DUOX2"
- "TRPM7"
- "WDR72"
- "LCTL"
- "CLN6"
- "LOC112268145"
- "MAN2C1"
- "HYKK"
- "EFL1"
- "GOLGA6L10"
- "ALPK3"
- "BLM"
- "UNC45A"
- "PRC1"
- "IGF1R"
- "PGAP6"
- "CAPN15"
- "RPUSD1"
- "TPSAB1"
- "TPSD1"
- "HS3ST6"
- "FLYWCH1"
- "SLX4"
- "MGRN1"
- "GRIN2A"
- "LOC400499"
- "ABCC1"
- "SDR42E2"
- "COG7"
- "IL4R"
- "TBX6"
- "NPIPB13"
- "ZNF48"
- "TRIM72"
- "ORC6"
- "NOD2"
- "MMP2"
- "BBS2"
- "TRADD"
- "CDH1"
- "CHST6"
- "FOXF1"
- "ZNF469"
- "PIEZO1"
- "MRM3"
- "SCIMP"
- "AIPL1"
- "PITPNM3"
- "TP53"
- "COX10"
- "FLCN"
- "MYO15A"
- "SHMT1"
- "LGALS9C"
- "GRAP"
- "AKAP10"
- "MAP2K3"
- "KCNJ18"
- "RSKR"
- "FAM222B"
- "SSH2"
- "CRLF3"
- "TBC1D3F"
- "PIGW"
- "ACACA"
- "STAT3"
- "BRCA1"
- "SLC4A1"
- "PNPO"
- "CALCOCO2"
- "PDK2"
- "COL1A1"
- "BRIP1"
- "LRRC37A3"
- "TSEN54"
- "UNC13D"
- "ACOX1"
- "ST6GALNAC1"
- "LOC124904103"
- "CARD14"
- "RNF213"
- "BAIAP2"
- "MC2R"
- "CDH2"
- "KLHL14"
- "ATP5F1A"
- "ATP8B1"
- "NEDD4L"
- "LMAN1"
- "RTTN"
- "IZUMO4"
- "KDM4B"
- "INSR"
- "FBN3"
- "CERS4"
- "TYK2"
- "ZNF44"
- "PTGER1"
- "ADGRE2"
- "SLC5A5"
- "HAMP"
- "CD177"
- "CBLC"
- "RTN2"
- "OPA3"
- "RASIP1"
- "ZNF701"
- "SLC4A11"
- "HSPA12B"
- "FERMT1"
- "SEC23B"
- "ABHD12"
- "HNF4A"
- "MATN4"
- "OCSTAMP"
- "PCK1"
- "DIDO1"
- "NRIP1"
- "IFNAR2"
- "KCNE2"
- "LOC102723769"
- "IL17RA"
- "LOC124905153"
- "SNAP29"
- "RIMBP3C"
- "DDTL"
- "CHEK2"
- "NF2"
- "PLA2G3"
- "TIMP3"
- "EP300"
- "TNFRSF13C"
- "NAGA"
- "EFCAB6"
- "PNPLA3"
- "ASMT"
- "GYG2"
- "ZNF41"
- "ZXDA"
- "ZNF711"
- "XIAP"
- "SAGE1"
- "PRRG3"
- "OPN1LW"
- "G6PD"
- regulatoryFeatureFilter: {}
- frequencyFilter:
maxFrequency: 2.0
- pathogenicityFilter:
keepNonPathogenic: true
- inheritanceFilter: {}
- omimPrioritiser: {}
outputOptions:
outputFormats:
- "HTML"
- "TSV_GENE"
- "TSV_VARIANT"
- "JSON"
outputFileName: "P00110_11_Exomiseri_REMM"
outputDirectory: "/mnt/storage_pool/Genomics/VarXOmics/examples/P00110_11"
Filtering Summary
| Filter | Report | Passed filter | Failed filter |
|---|---|---|---|
| Gene priority score |
|
4642 | 14529 |
| Failed previous VCF filters |
|
1941592 | 0 |
| Gene id |
|
152708 | 1788884 |
| Regulatory feature |
|
41900 | 110808 |
| Frequency |
|
2544 | 39356 |
| Pathogenicity |
|
2544 | 0 |
| Inheritance |
|
2537 | 7 |
Variant Type Distribution
| Variant Type | P00110_BL_DNA_11 |
|---|---|
| FRAMESHIFT_ELONGATION | 1 |
| FRAMESHIFT_TRUNCATION | 1 |
| FRAMESHIFT_VARIANT | 3 |
| INTERNAL_FEATURE_ELONGATION | 0 |
| FEATURE_TRUNCATION | 0 |
| MNV | 0 |
| STOP_GAINED | 1 |
| STOP_LOST | 0 |
| START_LOST | 0 |
| SPLICE_ACCEPTOR_VARIANT | 0 |
| SPLICE_DONOR_VARIANT | 0 |
| MISSENSE_VARIANT | 91 |
| INFRAME_INSERTION | 3 |
| DISRUPTIVE_INFRAME_INSERTION | 1 |
| INFRAME_DELETION | 0 |
| DISRUPTIVE_INFRAME_DELETION | 1 |
| FIVE_PRIME_UTR_TRUNCATION | 0 |
| THREE_PRIME_UTR_TRUNCATION | 0 |
| SPLICE_REGION_VARIANT | 8 |
| STOP_RETAINED_VARIANT | 0 |
| INITIATOR_CODON_VARIANT | 0 |
| SYNONYMOUS_VARIANT | 19 |
| CODING_TRANSCRIPT_INTRON_VARIANT | 1797 |
| FIVE_PRIME_UTR_EXON_VARIANT | 6 |
| THREE_PRIME_UTR_EXON_VARIANT | 40 |
| FIVE_PRIME_UTR_INTRON_VARIANT | 207 |
| THREE_PRIME_UTR_INTRON_VARIANT | 0 |
| NON_CODING_TRANSCRIPT_EXON_VARIANT | 0 |
| NON_CODING_TRANSCRIPT_INTRON_VARIANT | 0 |
| UPSTREAM_GENE_VARIANT | 70 |
| DOWNSTREAM_GENE_VARIANT | 52 |
| INTERGENIC_VARIANT | 223 |
| REGULATORY_REGION_VARIANT | 13 |
Prioritised Genes
- Phenotypic similarity 0.998 to Breast-ovarian cancer, familial, 2 associated with BRCA2.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003002, Breast carcinoma
- HP:0006625, Multifocal breast carcinoma - HP:0003002, Breast carcinoma
- Phenotypic similarity 0.392 to mouse mutant involving BRCA2.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0002114, abnormal axial skeleton morphology
- HP:0006625, Multifocal breast carcinoma - MP:0002114, abnormal axial skeleton morphology
- Proximity score 0.515 in interactome to PALB2 and phenotypic similarity 0.998 to Breast-ovarian cancer, familial, susceptibility to, 5 associated with PALB2.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003002, Breast carcinoma
- HP:0006625, Multifocal breast carcinoma - HP:0003002, Breast carcinoma
- Proximity score 0.515 in interactome to PALB2 and phenotypic similarity 0.306 to mouse mutant of PALB2.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0002825, abnormal notochord morphology
- HP:0006625, Multifocal breast carcinoma - MP:0002825, abnormal notochord morphology
- Known diseases:
- OMIM:114480 Breast cancer, male, susceptibility to (susceptibility)
- OMIM:155255 Medulloblastoma (susceptibility)
- OMIM:176807 Prostate cancer (susceptibility)
- OMIM:194070 Wilms tumor - autosomal dominant
- OMIM:605724 Fanconi anemia, complementation group D1 - autosomal recessive
- OMIM:612555 Breast-ovarian cancer, familial, 2 (susceptibility)
- OMIM:613029 Glioblastoma 3 (susceptibility)
- OMIM:613347 Pancreatic cancer 2 (susceptibility)
- ORPHA:1333 Familial pancreatic carcinoma (susceptibility)
- ORPHA:145 Hereditary breast and/or ovarian cancer syndrome - autosomal dominant
- ORPHA:654 Nephroblastoma - autosomal dominant
- ORPHA:70567 Cholangiocarcinoma (unconfirmed)
- ORPHA:84 Fanconi anemia - autosomal recessive
AUTOSOMAL_DOMINANT
Exomiser Score: 0.998 (p=2.0E-6)
Phenotype Score: 0.998
Variant Score: 1.000
- Phenotype matches to diseases consistent with this MOI:
- Phenotypic similarity 0.998 to OMIM:612555 Breast-ovarian cancer, familial, 2
- Phenotypic similarity 0.998 to OMIM:114480 Breast cancer, male, susceptibility to
- Phenotypic similarity 0.998 to ORPHA:1333 Familial pancreatic carcinoma
- Phenotypic similarity 0.998 to ORPHA:145 Hereditary breast and/or ovarian cancer syndrome
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- No frequency data
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.059 (p=3.1E-1)
Phenotype Score: 0.515
Variant Score: 0.564
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.127243
- REMM: 0.127
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.170955
- REMM: 0.171
- Frequency Data:
- No frequency data
- Transcripts:
- BRCA2:ENST00000380152.8:c.6842-1449G>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.00115
- REMM: 0.001
- Frequency Data:
- UK10K: 0.4496%
- gnomAD_G_AFR: 0.0578%
- gnomAD_G_AMR: 0.1244%
- gnomAD_G_NFE: 0.3325%
- Transcripts:
- BRCA2:ENST00000380152.8:c.6842-1122C>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- UK10K: 1.1240%
- gnomAD_G_AFR: 0.1927%
- gnomAD_G_AMR: 1.3042%
- gnomAD_G_NFE: 1.0895%
- gnomAD_G_SAS: 0.3318%
- Phenotypic similarity 0.998 to Hereditary breast and/or ovarian cancer syndrome associated with BRIP1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003002, Breast carcinoma
- HP:0006625, Multifocal breast carcinoma - HP:0003002, Breast carcinoma
- Proximity score 0.514 in interactome to PALB2 and phenotypic similarity 0.998 to Breast-ovarian cancer, familial, susceptibility to, 5 associated with PALB2.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003002, Breast carcinoma
- HP:0006625, Multifocal breast carcinoma - HP:0003002, Breast carcinoma
- Proximity score 0.514 in interactome to PALB2 and phenotypic similarity 0.306 to mouse mutant of PALB2.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0002825, abnormal notochord morphology
- HP:0006625, Multifocal breast carcinoma - MP:0002825, abnormal notochord morphology
- Known diseases:
- OMIM:114480 Breast cancer, early-onset, susceptibility to (susceptibility)
- OMIM:609054 Fanconi anemia, complementation group J - autosomal recessive
- ORPHA:145 Hereditary breast and/or ovarian cancer syndrome - autosomal dominant
- ORPHA:84 Fanconi anemia - autosomal recessive
AUTOSOMAL_DOMINANT
Exomiser Score: 0.996 (p=2.8E-4)
Phenotype Score: 0.998
Variant Score: 0.917
- Phenotype matches to diseases consistent with this MOI:
- Phenotypic similarity 0.998 to ORPHA:145 Hereditary breast and/or ovarian cancer syndrome
- Phenotypic similarity 0.998 to OMIM:114480 Breast cancer, early-onset, susceptibility to
- Transcripts:
- BRIP1:ENST00000259008.7:c.2379+4464T>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.917163
- REMM: 0.917
- Frequency Data:
- No frequency data
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.444 (p=1.1E-1)
Phenotype Score: 0.514
Variant Score: 0.840
- Transcripts:
- BRIP1:ENST00000259008.7:c.2379+4464T>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.917163
- REMM: 0.917
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.763451
- REMM: 0.763
- Frequency Data:
- No frequency data
- Transcripts:
- BRIP1:ENST00000259008.7:c.2905+673T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.717037
- REMM: 0.717
- Frequency Data:
- UK10K: 0.0529%
- gnomAD_G_AMR: 0.0196%
- gnomAD_G_NFE: 0.0456%
- gnomAD_G_SAS: 0.0621%
- Transcripts:
- BRIP1:ENST00000259008.7:c.2379+10320T>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.702846
- REMM: 0.703
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.575658
- REMM: 0.576
- Frequency Data:
- No frequency data
- Transcripts:
- BRIP1:ENST00000259008.7:c.628-6113A>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.550067
- REMM: 0.550
- Frequency Data:
- UK10K: 0.3174%
- gnomAD_G_AFR: 0.0529%
- gnomAD_G_AMR: 0.5502%
- gnomAD_G_EAS: 0.0386%
- gnomAD_G_NFE: 0.3164%
- gnomAD_G_SAS: 0.0208%
- Transcripts:
- BRIP1:ENST00000259008.7:c.2492+2743del:p.(=)
- Pathogenicity Data:
- Best Score: 0.526898
- REMM: 0.527
- Frequency Data:
- UK10K: 0.2909%
- gnomAD_G_AFR: 0.0482%
- gnomAD_G_AMR: 0.5623%
- gnomAD_G_EAS: 0.0386%
- gnomAD_G_NFE: 0.3102%
- gnomAD_G_SAS: 0.0207%
- Pathogenicity Data:
- Best Score: 0.414022
- REMM: 0.414
- Frequency Data:
- No frequency data
- Transcripts:
- BRIP1:ENST00000259008.7:c.2380-5630del:p.(=)
- Pathogenicity Data:
- Best Score: 0.39633
- REMM: 0.396
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.210329
- REMM: 0.210
- Frequency Data:
- No frequency data
- Transcripts:
- BRIP1:ENST00000259008.7:c.627+10992del:p.(=)
- Pathogenicity Data:
- Best Score: 0.190178
- REMM: 0.190
- Frequency Data:
- No frequency data
- Transcripts:
- BRIP1:ENST00000259008.7:c.628-17974A>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.171081
- REMM: 0.171
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.127119
- REMM: 0.127
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.127119
- REMM: 0.127
- Frequency Data:
- No frequency data
- Transcripts:
- BRIP1:ENST00000259008.7:c.2379+11368G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0939377
- REMM: 0.094
- Frequency Data:
- UK10K: 0.0529%
- gnomAD_G_AMR: 0.0196%
- gnomAD_G_NFE: 0.0470%
- gnomAD_G_SAS: 0.0621%
- Pathogenicity Data:
- Best Score: 0.110629
- REMM: 0.111
- Frequency Data:
- gnomAD_G_AFR: 0.4566%
- gnomAD_G_AMR: 0.7434%
- gnomAD_G_EAS: 1.4656%
- gnomAD_G_NFE: 0.4438%
- gnomAD_G_SAS: 0.7194%
- Pathogenicity Data:
- Best Score: 6.0E-4
- REMM: 0.001
- Frequency Data:
- No frequency data
- Transcripts:
- BRIP1:ENST00000259008.7:c.206-1203G>A:p.(=)
- Pathogenicity Data:
- Best Score: 3.33333E-4
- REMM: 0.000
- Frequency Data:
- UK10K: 0.3306%
- gnomAD_G_AFR: 0.1304%
- gnomAD_G_AMR: 0.3256%
- gnomAD_G_EAS: 0.0590%
- gnomAD_G_NFE: 0.4449%
- gnomAD_G_SAS: 0.1669%
- Transcripts:
- BRIP1:ENST00000259008.7:c.628-15093G>A:p.(=)
- Pathogenicity Data:
- Best Score: 3.33333E-4
- REMM: 0.000
- Frequency Data:
- UK10K: 0.4232%
- gnomAD_G_AFR: 0.0976%
- gnomAD_G_AMR: 0.1322%
- gnomAD_G_EAS: 0.0198%
- gnomAD_G_NFE: 0.5748%
- gnomAD_G_SAS: 0.7334%
- Transcripts:
- BRIP1:ENST00000259008.7:c.2380-4446C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- gnomAD_G_AFR: 0.0097%
- gnomAD_G_AMR: 0.0066%
- gnomAD_G_NFE: 0.0015%
- gnomAD_G_SAS: 0.0207%
- Transcripts:
- BRIP1:ENST00000259008.7:c.2098-3543C>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- UK10K: 0.3042%
- gnomAD_G_AFR: 0.0481%
- gnomAD_G_AMR: 0.5491%
- gnomAD_G_NFE: 0.3088%
- gnomAD_G_SAS: 0.0208%
- Phenotypic similarity 0.998 to Familial pancreatic carcinoma associated with PALLD.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003002, Breast carcinoma
- HP:0006625, Multifocal breast carcinoma - HP:0003002, Breast carcinoma
- Proximity score 0.500 in interactome to SPTBN1 and phenotypic similarity 0.685 to Developmental delay, impaired speech, and behavioral abnormalities associated with SPTBN1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0032408, Breast mass
- HP:0006625, Multifocal breast carcinoma - HP:0032408, Breast mass
- Known diseases:
- OMIM:606856 Pancreatic cancer, susceptibility to, 1 (susceptibility)
- ORPHA:1333 Familial pancreatic carcinoma (susceptibility)
AUTOSOMAL_DOMINANT
Exomiser Score: 0.995 (p=3.6E-4)
Phenotype Score: 0.998
Variant Score: 0.894
- Phenotype matches to diseases consistent with this MOI:
- Phenotypic similarity 0.998 to ORPHA:1333 Familial pancreatic carcinoma
- Transcripts:
- PALLD:ENST00000505667.6:c.909-55353A>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.89415
- REMM: 0.894
- Frequency Data:
- No frequency data
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.048 (p=3.3E-1)
Phenotype Score: 0.250
Variant Score: 0.839
- Transcripts:
- PALLD:ENST00000505667.6:c.909-55353A>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.89415
- REMM: 0.894
- Frequency Data:
- No frequency data
- Transcripts:
- PALLD:ENST00000505667.6:c.2199+8G>A:p.?
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- UK10K: 0.0529%
- gnomAD_E_AFR: 0.1467%
- gnomAD_E_AMR: 0.0940%
- gnomAD_E_NFE: 0.0733%
- gnomAD_E_SAS: 0.0826%
- gnomAD_G_AFR: 0.0577%
- gnomAD_G_AMR: 0.0588%
- gnomAD_G_NFE: 0.0926%
- gnomAD_G_SAS: 0.1037%
- Transcripts:
- PALLD:ENST00000505667.6::
- Pathogenicity Data:
- Best Score: 0.745899
- REMM: 0.746
- Frequency Data:
- gnomAD_G_AFR: 0.0024%
- Pathogenicity Data:
- Best Score: 0.70156
- REMM: 0.702
- Frequency Data:
- No frequency data
- Transcripts:
- PALLD:ENST00000505667.6:c.-82-3880G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.669952
- REMM: 0.670
- Frequency Data:
- No frequency data
- Transcripts:
- PALLD:ENST00000505667.6:c.1088-850del:p.(=)
- Pathogenicity Data:
- Best Score: 0.663078
- REMM: 0.663
- Frequency Data:
- No frequency data
- Transcripts:
- PALLD:ENST00000505667.6:c.909-20409del:p.(=)
- Pathogenicity Data:
- Best Score: 0.656639
- REMM: 0.657
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.638381
- REMM: 0.638
- Frequency Data:
- No frequency data
- Transcripts:
- PALLD:ENST00000505667.6:c.1965-45298T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.908351
- REMM: 0.908
- Frequency Data:
- UK10K: 0.4099%
- gnomAD_G_AFR: 1.1937%
- gnomAD_G_AMR: 0.4446%
- gnomAD_G_NFE: 0.6498%
- gnomAD_G_SAS: 0.1658%
- Transcripts:
- PALLD:ENST00000505667.6:c.1965-86074G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.607142
- REMM: 0.607
- Frequency Data:
- UK10K: 0.0132%
- gnomAD_G_AFR: 0.0024%
- gnomAD_G_AMR: 0.0262%
- gnomAD_G_NFE: 0.0235%
- Transcripts:
- PALLD:ENST00000505667.6:c.1087+3578T>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.562287
- REMM: 0.562
- Frequency Data:
- gnomAD_G_AMR: 0.0131%
- gnomAD_G_EAS: 0.0384%
- Transcripts:
- PALLD:ENST00000505667.6:c.2622+1885del:p.(=)
- Pathogenicity Data:
- Best Score: 0.517315
- REMM: 0.517
- Frequency Data:
- No frequency data
- Transcripts:
- PALLD:ENST00000505667.6:c.1964+9364C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.545359
- REMM: 0.545
- Frequency Data:
- UK10K: 0.2513%
- gnomAD_G_AFR: 0.0530%
- gnomAD_G_AMR: 0.1897%
- gnomAD_G_NFE: 0.3236%
- gnomAD_G_SAS: 0.2285%
- Pathogenicity Data:
- Best Score: 0.494639
- REMM: 0.495
- Frequency Data:
- No frequency data
- Transcripts:
- PALLD:ENST00000505667.6:c.3058+362_3058+375del:p.(=)
- Pathogenicity Data:
- Best Score: 0.406249
- REMM: 0.406
- Frequency Data:
- No frequency data
- Transcripts:
- PALLD:ENST00000505667.6:c.909-77325del:p.(=)
- Pathogenicity Data:
- Best Score: 0.34522
- REMM: 0.345
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.34522
- REMM: 0.345
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.329221
- REMM: 0.329
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.326808
- REMM: 0.327
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.326808
- REMM: 0.327
- Frequency Data:
- No frequency data
- Transcripts:
- PALLD:ENST00000505667.6:c.1621+483A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.326808
- REMM: 0.327
- Frequency Data:
- No frequency data
- Transcripts:
- PALLD:ENST00000505667.6:c.1621+466del:p.(=)
- Pathogenicity Data:
- Best Score: 0.293892
- REMM: 0.294
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.268012
- REMM: 0.268
- Frequency Data:
- No frequency data
- Transcripts:
- PALLD:ENST00000505667.6::
- Pathogenicity Data:
- Best Score: 0.258846
- REMM: 0.259
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.250851
- REMM: 0.251
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.241352
- REMM: 0.241
- Frequency Data:
- No frequency data
- Transcripts:
- PALLD:ENST00000505667.6:c.1964+2020del:p.(=)
- Pathogenicity Data:
- Best Score: 0.238004
- REMM: 0.238
- Frequency Data:
- No frequency data
- Transcripts:
- PALLD:ENST00000505667.6:c.1964+81438G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.245392
- REMM: 0.245
- Frequency Data:
- gnomAD_G_AFR: 0.1269%
- gnomAD_G_AMR: 0.3103%
- gnomAD_G_EAS: 0.0547%
- gnomAD_G_NFE: 0.5220%
- gnomAD_G_SAS: 0.3347%
- Transcripts:
- PALLD:ENST00000505667.6::
- Pathogenicity Data:
- Best Score: 0.154411
- REMM: 0.154
- Frequency Data:
- No frequency data
- Transcripts:
- PALLD:ENST00000505667.6:c.1965-18744A>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.105494
- REMM: 0.105
- Frequency Data:
- gnomAD_G_EAS: 0.0578%
- gnomAD_G_NFE: 0.0015%
- Transcripts:
- PALLD:ENST00000505667.6:c.1087+2296C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0924052
- REMM: 0.092
- Frequency Data:
- gnomAD_G_AMR: 0.0139%
- gnomAD_G_EAS: 0.0611%
- Transcripts:
- PALLD:ENST00000505667.6:c.1502-4363del:p.(=)
- Pathogenicity Data:
- Best Score: 0.0878825
- REMM: 0.088
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.0638532
- REMM: 0.064
- Frequency Data:
- gnomAD_G_AFR: 0.1829%
- gnomAD_G_AMR: 0.0458%
- gnomAD_G_EAS: 0.0386%
- gnomAD_G_NFE: 0.0176%
- Transcripts:
- PALLD:ENST00000505667.6:c.1964+47281del:p.(=)
- Pathogenicity Data:
- Best Score: 0.0533536
- REMM: 0.053
- Frequency Data:
- No frequency data
- Transcripts:
- PALLD:ENST00000505667.6:c.1621+437A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0355333
- REMM: 0.036
- Frequency Data:
- No frequency data
- Transcripts:
- PALLD:ENST00000505667.6:c.1621+433A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0332
- REMM: 0.033
- Frequency Data:
- No frequency data
- Transcripts:
- PALLD:ENST00000505667.6:c.1621+425A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0290667
- REMM: 0.029
- Frequency Data:
- No frequency data
- Transcripts:
- PALLD:ENST00000505667.6::
- Pathogenicity Data:
- Best Score: 0.0279738
- REMM: 0.028
- Frequency Data:
- No frequency data
- Transcripts:
- PALLD:ENST00000505667.6:c.1621+470A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0273917
- REMM: 0.027
- Frequency Data:
- No frequency data
- Transcripts:
- PALLD:ENST00000505667.6:c.1621+421A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0252536
- REMM: 0.025
- Frequency Data:
- No frequency data
- Transcripts:
- PALLD:ENST00000505667.6:c.1964+24133C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0129786
- REMM: 0.013
- Frequency Data:
- gnomAD_G_EAS: 0.0385%
- Transcripts:
- PALLD:ENST00000505667.6:c.1964+26730T>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0114952
- REMM: 0.011
- Frequency Data:
- No frequency data
- Transcripts:
- PALLD:ENST00000505667.6:c.1621+441A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0112833
- REMM: 0.011
- Frequency Data:
- No frequency data
- Transcripts:
- PALLD:ENST00000505667.6::
- Pathogenicity Data:
- Best Score: 0.0130762
- REMM: 0.013
- Frequency Data:
- gnomAD_G_AFR: 0.0024%
- gnomAD_G_EAS: 0.8863%
- gnomAD_G_NFE: 0.0029%
- Transcripts:
- PALLD:ENST00000505667.6:c.1621+429A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.00910833
- REMM: 0.009
- Frequency Data:
- No frequency data
- Transcripts:
- PALLD:ENST00000505667.6:c.1964+26751G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.00694524
- REMM: 0.007
- Frequency Data:
- No frequency data
- Transcripts:
- PALLD:ENST00000505667.6:c.*1792T>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.00264444
- REMM: 0.003
- Frequency Data:
- gnomAD_E_AFR: 0.1670%
- gnomAD_E_NFE: 0.1608%
- gnomAD_G_AFR: 0.0505%
- gnomAD_G_AMR: 0.0588%
- gnomAD_G_NFE: 0.0985%
- gnomAD_G_SAS: 0.1036%
- Transcripts:
- PALLD:ENST00000505667.6:c.1964+52897G>A:p.(=)
- Pathogenicity Data:
- Best Score: 9.0E-4
- REMM: 0.001
- Frequency Data:
- gnomAD_G_AMR: 0.0065%
- gnomAD_G_EAS: 0.3283%
- gnomAD_G_NFE: 0.0029%
- Transcripts:
- PALLD:ENST00000505667.6:c.1502-118G>A:p.(=)
- Pathogenicity Data:
- Best Score: 1.11111E-4
- REMM: 0.000
- Frequency Data:
- UK10K: 0.2645%
- gnomAD_E_AFR: 0.0852%
- gnomAD_E_AMR: 0.1445%
- gnomAD_E_NFE: 0.2955%
- gnomAD_E_SAS: 0.3677%
- gnomAD_G_AFR: 0.0529%
- gnomAD_G_AMR: 0.1505%
- gnomAD_G_NFE: 0.3043%
- gnomAD_G_SAS: 0.2902%
- Transcripts:
- PALLD:ENST00000505667.6:c.1621+413A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- No frequency data
- Transcripts:
- PALLD:ENST00000505667.6:c.1621+417A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- No frequency data
- Transcripts:
- PALLD:ENST00000505667.6:c.1964+50551A>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- gnomAD_G_AFR: 0.0121%
- gnomAD_G_AMR: 0.0132%
- gnomAD_G_EAS: 0.0580%
- gnomAD_G_NFE: 0.0103%
- Transcripts:
- PALLD:ENST00000505667.6:c.1964+61466C>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- gnomAD_G_AMR: 0.0065%
- gnomAD_G_NFE: 0.0088%
- Transcripts:
- PALLD:ENST00000505667.6:c.1965-55193C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- UK10K: 0.0529%
- gnomAD_G_AFR: 1.6594%
- gnomAD_G_AMR: 0.2756%
- gnomAD_G_NFE: 0.1075%
- gnomAD_G_SAS: 0.1460%
- Phenotypic similarity 0.950 to Bloom syndrome associated with BLM.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0100013, Neoplasm of the breast
- HP:0006625, Multifocal breast carcinoma - HP:0100013, Neoplasm of the breast
- Phenotypic similarity 0.258 to mouse mutant involving BLM.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0002416, abnormal proerythroblast morphology
- HP:0006625, Multifocal breast carcinoma - MP:0002416, abnormal proerythroblast morphology
- Proximity score 0.515 in interactome to RAD54L and phenotypic similarity 0.998 to Breast cancer, invasive ductal associated with RAD54L.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003002, Breast carcinoma
- HP:0006625, Multifocal breast carcinoma - HP:0003002, Breast carcinoma
- Known diseases:
- OMIM:210900 Bloom syndrome - autosomal recessive
- ORPHA:125 Bloom syndrome - autosomal recessive
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.987 (p=8.4E-4)
Phenotype Score: 0.950
Variant Score: 0.845
- Phenotype matches to diseases consistent with this MOI:
- Phenotypic similarity 0.950 to ORPHA:125 Bloom syndrome
- Transcripts:
- BLM:ENST00000355112.8::
- Pathogenicity Data:
- Best Score: 0.885674
- REMM: 0.886
- Frequency Data:
- gnomAD_G_AFR: 0.0121%
- gnomAD_G_AMR: 0.0396%
- gnomAD_G_NFE: 0.0682%
- gnomAD_G_SAS: 0.1043%
- Transcripts:
- BLM:ENST00000355112.8:c.2823+1956_2823+1957del:p.(=)
- Pathogenicity Data:
- Best Score: 0.816976
- REMM: 0.817
- Frequency Data:
- No frequency data
AUTOSOMAL_DOMINANT
Exomiser Score: 0.043 (p=3.4E-1)
Phenotype Score: 0.257
Variant Score: 0.817
- Transcripts:
- BLM:ENST00000355112.8:c.2823+1956_2823+1957del:p.(=)
- Pathogenicity Data:
- Best Score: 0.816976
- REMM: 0.817
- Frequency Data:
- No frequency data
- Transcripts:
- BLM:ENST00000355112.8::
- Pathogenicity Data:
- Best Score: 0.79492
- REMM: 0.795
- Frequency Data:
- gnomAD_G_NFE: 0.0015%
- Transcripts:
- BLM:ENST00000355112.8:c.4076+411C>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.64024
- REMM: 0.640
- Frequency Data:
- gnomAD_G_NFE: 0.0015%
- Transcripts:
- BLM:ENST00000355112.8::
- Pathogenicity Data:
- Best Score: 0.61616
- REMM: 0.616
- Frequency Data:
- UK10K: 0.1719%
- gnomAD_G_AFR: 0.0289%
- gnomAD_G_AMR: 0.2942%
- gnomAD_G_NFE: 0.2559%
- gnomAD_G_SAS: 0.1038%
- Transcripts:
- BLM:ENST00000355112.8:c.2119C>T:p.(Pro707Ser)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- UK10K: 0.2248%
- gnomAD_E_AFR: 0.0448%
- gnomAD_E_AMR: 0.1789%
- gnomAD_E_EAS: 0.0025%
- gnomAD_E_NFE: 0.2281%
- gnomAD_E_SAS: 0.1623%
- gnomAD_G_AFR: 0.0289%
- gnomAD_G_AMR: 0.2876%
- gnomAD_G_NFE: 0.2646%
- gnomAD_G_SAS: 0.1037%
- Transcripts:
- BLM:ENST00000355112.8:c.2824-661_2824-655del:p.(=)
- Pathogenicity Data:
- Best Score: 0.566772
- REMM: 0.567
- Frequency Data:
- No frequency data
- Transcripts:
- BLM:ENST00000355112.8:c.2555+4481del:p.(=)
- Pathogenicity Data:
- Best Score: 0.304246
- REMM: 0.304
- Frequency Data:
- No frequency data
- Transcripts:
- BLM:ENST00000355112.8::
- Pathogenicity Data:
- Best Score: 0.279421
- REMM: 0.279
- Frequency Data:
- gnomAD_G_AFR: 0.0533%
- gnomAD_G_AMR: 0.1102%
- gnomAD_G_NFE: 0.1682%
- gnomAD_G_SAS: 0.0231%
- Transcripts:
- BLM:ENST00000355112.8:c.3211-775_3211-772del:p.(=)
- Pathogenicity Data:
- Best Score: 0.0323532
- REMM: 0.032
- Frequency Data:
- No frequency data
- Transcripts:
- BLM:ENST00000355112.8:c.3019+694C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- UK10K: 0.2380%
- gnomAD_G_AFR: 0.0289%
- gnomAD_G_AMR: 0.2881%
- gnomAD_G_NFE: 0.2632%
- gnomAD_G_SAS: 0.1038%
- Transcripts:
- BLM:ENST00000355112.8:c.4077-66T>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- gnomAD_E_AFR: 0.0515%
- gnomAD_E_AMR: 0.1929%
- gnomAD_E_EAS: 0.0027%
- gnomAD_E_NFE: 0.2693%
- gnomAD_E_SAS: 0.1782%
- gnomAD_G_AFR: 0.0481%
- gnomAD_G_AMR: 0.6318%
- gnomAD_G_NFE: 0.4322%
- gnomAD_G_SAS: 0.1759%
- Phenotypic similarity 0.990 to ?Cowden syndrome 7 associated with SEC23B.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003002, Breast carcinoma
- HP:0006625, Multifocal breast carcinoma - HP:0003002, Breast carcinoma
- Phenotypic similarity 0.245 to zebrafish mutant involving SEC23B.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - ZP:0000916, ventral mandibular arch decreased size, abnormal
- HP:0006625, Multifocal breast carcinoma - ZP:0000916, ventral mandibular arch decreased size, abnormal
- Proximity score 0.509 in interactome to MGAT2 and phenotypic similarity 0.617 to MGAT2-CDG associated with MGAT2.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003186, Inverted nipples
- HP:0006625, Multifocal breast carcinoma - HP:0003186, Inverted nipples
- Proximity score 0.509 in interactome to MGAT2 and phenotypic similarity 0.347 to mouse mutant of MGAT2.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0000069, kyphoscoliosis
- HP:0006625, Multifocal breast carcinoma - MP:0000069, kyphoscoliosis
- Known diseases:
- OMIM:224100 Dyserythropoietic anemia, congenital, type II - autosomal recessive
- OMIM:616858 ?Cowden syndrome 7 (unconfirmed)
- ORPHA:201 Cowden syndrome - autosomal dominant
AUTOSOMAL_DOMINANT
Exomiser Score: 0.978 (p=1.1E-3)
Phenotype Score: 0.990
Variant Score: 0.741
- Phenotype matches to diseases consistent with this MOI:
- Phenotypic similarity 0.990 to OMIM:616858 ?Cowden syndrome 7
- Phenotypic similarity 0.904 to ORPHA:201 Cowden syndrome
- Transcripts:
- SEC23B:ENST00000650089.1:c.1743+205G>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.74239
- REMM: 0.742
- Frequency Data:
- gnomAD_G_NFE: 0.0118%
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.034 (p=3.6E-1)
Phenotype Score: 0.509
Variant Score: 0.507
- Transcripts:
- SEC23B:ENST00000650089.1:c.1743+205G>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.74239
- REMM: 0.742
- Frequency Data:
- gnomAD_G_NFE: 0.0118%
- Transcripts:
- SEC23B:ENST00000650089.1:c.770C>T:p.(Thr257Ile)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- UK10K: 1.5737%
- gnomAD_E_AFR: 0.1912%
- gnomAD_E_AMR: 0.4248%
- gnomAD_E_EAS: 0.0151%
- gnomAD_E_NFE: 1.5505%
- gnomAD_E_SAS: 1.4746%
- gnomAD_G_AFR: 0.2743%
- gnomAD_G_AMR: 0.4118%
- gnomAD_G_EAS: 0.0578%
- gnomAD_G_NFE: 1.6143%
- gnomAD_G_SAS: 1.2852%
- Transcripts:
- SEC23B:ENST00000650089.1::
- Pathogenicity Data:
- Best Score: 0.164852
- REMM: 0.165
- Frequency Data:
- No frequency data
- Transcripts:
- SEC23B:ENST00000650089.1:c.2214+2573del:p.(=)
- Pathogenicity Data:
- Best Score: 0.0954024
- REMM: 0.095
- Frequency Data:
- No frequency data
- Transcripts:
- SEC23B:ENST00000650089.1:c.367-3933G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0348992
- REMM: 0.035
- Frequency Data:
- gnomAD_G_AFR: 0.0048%
- gnomAD_G_NFE: 0.0279%
- Transcripts:
- SEC23B:ENST00000650089.1:c.279+630G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.00156944
- REMM: 0.002
- Frequency Data:
- UK10K: 1.5737%
- gnomAD_G_AFR: 0.3905%
- gnomAD_G_AMR: 0.4450%
- gnomAD_G_EAS: 0.0579%
- gnomAD_G_NFE: 1.6219%
- gnomAD_G_SAS: 1.2692%
- Transcripts:
- SEC23B:ENST00000650089.1:c.367-1112C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- No frequency data
- Phenotypic similarity 0.998 to Fanconi anemia, complementation group S associated with BRCA1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003002, Breast carcinoma
- HP:0006625, Multifocal breast carcinoma - HP:0003002, Breast carcinoma
- Proximity score 0.515 in interactome to PALB2 and phenotypic similarity 0.998 to Breast-ovarian cancer, familial, susceptibility to, 5 associated with PALB2.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003002, Breast carcinoma
- HP:0006625, Multifocal breast carcinoma - HP:0003002, Breast carcinoma
- Proximity score 0.515 in interactome to PALB2 and phenotypic similarity 0.306 to mouse mutant of PALB2.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0002825, abnormal notochord morphology
- HP:0006625, Multifocal breast carcinoma - MP:0002825, abnormal notochord morphology
- Known diseases:
- OMIM:604370 Breast-ovarian cancer, familial, 1 (susceptibility)
- OMIM:617883 Fanconi anemia, complementation group S - autosomal recessive
- ORPHA:1333 Familial pancreatic carcinoma (susceptibility)
- ORPHA:145 Hereditary breast and/or ovarian cancer syndrome - autosomal dominant
- ORPHA:70567 Cholangiocarcinoma (unconfirmed)
- ORPHA:84 Fanconi anemia - autosomal recessive
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.947 (p=1.6E-3)
Phenotype Score: 0.998
Variant Score: 0.631
- Phenotype matches to diseases consistent with this MOI:
- Phenotypic similarity 0.998 to OMIM:617883 Fanconi anemia, complementation group S
- Transcripts:
- BRCA1:ENST00000357654.9:c.5075-877del:p.(=)
- Pathogenicity Data:
- Best Score: 0.630993
- REMM: 0.631
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.366503
- REMM: 0.367
- Frequency Data:
- No frequency data
- Transcripts:
- BRCA1:ENST00000357654.9:c.593+357C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.630823
- REMM: 0.631
- Frequency Data:
- UK10K: 1.0579%
- gnomAD_G_AFR: 0.2003%
- gnomAD_G_AMR: 1.2334%
- gnomAD_G_EAS: 0.0386%
- gnomAD_G_NFE: 1.2826%
- gnomAD_G_SAS: 1.7620%
- Pathogenicity Data:
- Best Score: 0.101418
- REMM: 0.101
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.0983444
- REMM: 0.098
- Frequency Data:
- No frequency data
- Transcripts:
- BRCA1:ENST00000357654.9:c.4185+2981A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- UK10K: 1.0447%
- gnomAD_G_AFR: 0.1977%
- gnomAD_G_AMR: 1.2313%
- gnomAD_G_EAS: 0.0388%
- gnomAD_G_NFE: 1.2842%
- gnomAD_G_SAS: 1.7442%
- Phenotypic similarity 0.998 to Lynch syndrome associated with MSH2.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003002, Breast carcinoma
- HP:0006625, Multifocal breast carcinoma - HP:0003002, Breast carcinoma
- Phenotypic similarity 0.290 to mouse mutant involving MSH2.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0003789, increased osteosarcoma incidence
- HP:0006625, Multifocal breast carcinoma - MP:0003789, increased osteosarcoma incidence
- Proximity score 0.513 in interactome to MGMT and phenotypic similarity 0.950 to Familial melanoma associated with MGMT.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0100013, Neoplasm of the breast
- HP:0006625, Multifocal breast carcinoma - HP:0100013, Neoplasm of the breast
- Known diseases:
- OMIM:120435 Lynch syndrome 1 - autosomal dominant
- OMIM:158320 Muir-Torre syndrome - autosomal dominant
- OMIM:619096 Mismatch repair cancer syndrome 2 - autosomal recessive
- ORPHA:144 Lynch syndrome - autosomal dominant
AUTOSOMAL_DOMINANT
Exomiser Score: 0.930 (p=1.8E-3)
Phenotype Score: 0.998
Variant Score: 0.599
- Phenotype matches to diseases consistent with this MOI:
- Phenotypic similarity 0.998 to ORPHA:144 Lynch syndrome
- Phenotypic similarity 0.998 to OMIM:158320 Muir-Torre syndrome
- Transcripts:
- MSH2:ENST00000233146.7:c.1774A>G:p.(Met592Val)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- gnomAD_E_AMR: 0.0022%
- gnomAD_E_NFE: 0.0107%
- gnomAD_G_NFE: 0.0118%
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.058 (p=3.1E-1)
Phenotype Score: 0.513
Variant Score: 0.563
- Transcripts:
- MSH2:ENST00000233146.7:c.1774A>G:p.(Met592Val)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- gnomAD_E_AMR: 0.0022%
- gnomAD_E_NFE: 0.0107%
- gnomAD_G_NFE: 0.0118%
- Transcripts:
- MSH2:ENST00000233146.7::
- Pathogenicity Data:
- Best Score: 0.526106
- REMM: 0.526
- Frequency Data:
- No frequency data
- Transcripts:
- MSH2:ENST00000233146.7:c.1276+6110C>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.453645
- REMM: 0.454
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.452815
- REMM: 0.453
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.447146
- REMM: 0.447
- Frequency Data:
- No frequency data
- Transcripts:
- MSH2:ENST00000233146.7::
- Pathogenicity Data:
- Best Score: 0.429106
- REMM: 0.429
- Frequency Data:
- No frequency data
- Transcripts:
- MSH2:ENST00000233146.7:c.793-720del:p.(=)
- Pathogenicity Data:
- Best Score: 0.389762
- REMM: 0.390
- Frequency Data:
- No frequency data
- Transcripts:
- MSH2:ENST00000233146.7:c.212-1613A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.328228
- REMM: 0.328
- Frequency Data:
- No frequency data
- Transcripts:
- MSH2:ENST00000233146.7:c.943-840_943-839insTTT:p.(=)
- Pathogenicity Data:
- Best Score: 0.311269
- REMM: 0.311
- Frequency Data:
- No frequency data
- Transcripts:
- MSH2:ENST00000233146.7::
- Pathogenicity Data:
- Best Score: 0.372095
- REMM: 0.372
- Frequency Data:
- gnomAD_G_AFR: 0.2775%
- gnomAD_G_AMR: 0.4493%
- gnomAD_G_NFE: 0.8037%
- gnomAD_G_SAS: 0.8913%
- Transcripts:
- MSH2:ENST00000233146.7:c.1662-2011del:p.(=)
- Pathogenicity Data:
- Best Score: 0.231033
- REMM: 0.231
- Frequency Data:
- No frequency data
- Transcripts:
- MSH2:ENST00000233146.7:c.1386+3374C>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.132028
- REMM: 0.132
- Frequency Data:
- No frequency data
- Transcripts:
- MSH2:ENST00000233146.7:c.1386+3370C>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0908552
- REMM: 0.091
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.0900742
- REMM: 0.090
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.0208746
- REMM: 0.021
- Frequency Data:
- No frequency data
- Transcripts:
- MSH2:ENST00000233146.7::
- Pathogenicity Data:
- Best Score: 0.0109857
- REMM: 0.011
- Frequency Data:
- gnomAD_G_AFR: 0.3825%
- gnomAD_G_AMR: 0.6016%
- gnomAD_G_EAS: 0.6238%
- gnomAD_G_NFE: 0.1454%
- gnomAD_G_SAS: 0.3521%
- Transcripts:
- MSH2:ENST00000233146.7:c.1276+4944G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- gnomAD_G_AFR: 0.0024%
- gnomAD_G_NFE: 0.0029%
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- No frequency data
- Transcripts:
- MSH2:ENST00000233146.7:c.2635-597C>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- No frequency data
- Phenotypic similarity 0.998 to Li-Fraumeni syndrome associated with CHEK2.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003002, Breast carcinoma
- HP:0006625, Multifocal breast carcinoma - HP:0003002, Breast carcinoma
- Known diseases:
- OMIM:176807 Prostate cancer, somatic - autosomal dominant
- OMIM:259500 Osteosarcoma, somatic - somatic
- OMIM:609265 Tumor predisposition syndrome 4, breast/prostate/colorectal - autosomal dominant
- ORPHA:145 Hereditary breast and/or ovarian cancer syndrome - autosomal dominant
- ORPHA:524 Li-Fraumeni syndrome - autosomal dominant
- ORPHA:668 Osteosarcoma - somatic
AUTOSOMAL_DOMINANT
Exomiser Score: 0.928 (p=1.8E-3)
Phenotype Score: 0.998
Variant Score: 0.596
- Phenotype matches to diseases consistent with this MOI:
- Phenotypic similarity 0.998 to ORPHA:524 Li-Fraumeni syndrome
- Phenotypic similarity 0.998 to OMIM:609265 Tumor predisposition syndrome 4, breast/prostate/colorectal
- Phenotypic similarity 0.998 to ORPHA:145 Hereditary breast and/or ovarian cancer syndrome
- Transcripts:
- CHEK2:ENST00000404276.6:c.410G>A:p.(Arg137Gln)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- gnomAD_E_AMR: 0.0425%
- gnomAD_E_NFE: 0.0112%
- gnomAD_G_AFR: 0.0048%
- gnomAD_G_AMR: 0.0197%
- gnomAD_G_NFE: 0.0191%
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.000 (p=8.7E-1)
Phenotype Score: 0.000
Variant Score: 0.492
- Transcripts:
- CHEK2:ENST00000404276.6:c.410G>A:p.(Arg137Gln)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- gnomAD_E_AMR: 0.0425%
- gnomAD_E_NFE: 0.0112%
- gnomAD_G_AFR: 0.0048%
- gnomAD_G_AMR: 0.0197%
- gnomAD_G_NFE: 0.0191%
- Pathogenicity Data:
- Best Score: 0.387235
- REMM: 0.387
- Frequency Data:
- No frequency data
- Transcripts:
- CHEK2:ENST00000404276.6:c.320-4178_320-4174del:p.(=)
- Pathogenicity Data:
- Best Score: 0.234206
- REMM: 0.234
- Frequency Data:
- No frequency data
- Transcripts:
- CHEK2:ENST00000404276.6:c.593-2109A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0602798
- REMM: 0.060
- Frequency Data:
- No frequency data
- Transcripts:
- CHEK2:ENST00000404276.6:c.1008+475del:p.(=)
- Pathogenicity Data:
- Best Score: 2.0E-4
- REMM: 0.000
- Frequency Data:
- No frequency data
- Transcripts:
- CHEK2:ENST00000404276.6:c.1461+345G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- UK10K: 0.8992%
- gnomAD_G_AFR: 0.1349%
- gnomAD_G_AMR: 0.2158%
- gnomAD_G_NFE: 0.9383%
- gnomAD_G_SAS: 0.0829%
- Phenotypic similarity 0.588 to Primrose syndrome associated with ZBTB20.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0000771, Gynecomastia
- HP:0006625, Multifocal breast carcinoma - HP:0000771, Gynecomastia
- Proximity score 0.500 in interactome to PRKN and phenotypic similarity 0.998 to Ovarian cancer, somatic associated with PRKN.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003002, Breast carcinoma
- HP:0006625, Multifocal breast carcinoma - HP:0003002, Breast carcinoma
- Proximity score 0.500 in interactome to PRKN and phenotypic similarity 0.368 to mouse mutant of PRKN.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0000160, kyphosis
- HP:0006625, Multifocal breast carcinoma - MP:0000160, kyphosis
- Known diseases:
- OMIM:259050 Primrose syndrome - autosomal dominant
- ORPHA:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome - autosomal dominant
AUTOSOMAL_DOMINANT
Exomiser Score: 0.866 (p=2.7E-3)
Phenotype Score: 0.588
Variant Score: 0.984
- Phenotype matches to diseases consistent with this MOI:
- Phenotypic similarity 0.588 to OMIM:259050 Primrose syndrome
- Phenotypic similarity 0.588 to ORPHA:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome
- Transcripts:
- ZBTB20:ENST00000675478.1:c.-295+68968G>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.984443
- REMM: 0.984
- Frequency Data:
- gnomAD_G_NFE: 0.0015%
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.114 (p=2.5E-1)
Phenotype Score: 0.250
Variant Score: 0.941
- Transcripts:
- ZBTB20:ENST00000675478.1:c.-295+68968G>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.984443
- REMM: 0.984
- Frequency Data:
- gnomAD_G_NFE: 0.0015%
- Transcripts:
- ZBTB20:ENST00000675478.1:c.-255+46430del:p.(=)
- Pathogenicity Data:
- Best Score: 0.897839
- REMM: 0.898
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.909251
- REMM: 0.909
- Frequency Data:
- UK10K: 0.0926%
- gnomAD_G_AFR: 0.0554%
- gnomAD_G_AMR: 0.3141%
- gnomAD_G_NFE: 0.1661%
- gnomAD_G_SAS: 0.0830%
- Pathogenicity Data:
- Best Score: 0.742404
- REMM: 0.742
- Frequency Data:
- gnomAD_G_NFE: 0.0015%
- Transcripts:
- ZBTB20:ENST00000675478.1:c.200-3799A>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.983669
- REMM: 0.984
- Frequency Data:
- UK10K: 1.1373%
- gnomAD_G_AFR: 0.2165%
- gnomAD_G_AMR: 0.4053%
- gnomAD_G_NFE: 1.0408%
- gnomAD_G_SAS: 0.4144%
- Transcripts:
- ZBTB20:ENST00000675478.1:c.-456+20079C>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.705608
- REMM: 0.706
- Frequency Data:
- UK10K: 0.0397%
- gnomAD_G_AFR: 0.0120%
- gnomAD_G_AMR: 0.0262%
- gnomAD_G_NFE: 0.0692%
- gnomAD_G_SAS: 0.1245%
- Transcripts:
- ZBTB20:ENST00000675478.1:c.199+8362T>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.655573
- REMM: 0.656
- Frequency Data:
- gnomAD_G_NFE: 0.0074%
- Transcripts:
- Pathogenicity Data:
- Best Score: 0.651667
- REMM: 0.652
- Frequency Data:
- UK10K: 0.0264%
- gnomAD_G_AFR: 0.0144%
- gnomAD_G_AMR: 0.1177%
- gnomAD_G_NFE: 0.0588%
- Pathogenicity Data:
- Best Score: 0.620999
- REMM: 0.621
- Frequency Data:
- gnomAD_G_NFE: 0.0015%
- Transcripts:
- ZBTB20:ENST00000675478.1:c.616G>A:p.(Asp206Asn)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- gnomAD_E_SAS: 0.0116%
- gnomAD_G_SAS: 0.0415%
- Pathogenicity Data:
- Best Score: 0.592947
- REMM: 0.593
- Frequency Data:
- UK10K: 0.0397%
- gnomAD_G_AFR: 0.0120%
- gnomAD_G_AMR: 0.0393%
- gnomAD_G_NFE: 0.0706%
- gnomAD_G_SAS: 0.2082%
- Transcripts:
- ZBTB20:ENST00000675478.1:c.-417+21042G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.575983
- REMM: 0.576
- Frequency Data:
- UK10K: 0.0397%
- gnomAD_G_AFR: 0.0120%
- gnomAD_G_AMR: 0.0392%
- gnomAD_G_NFE: 0.0706%
- gnomAD_G_SAS: 0.1866%
- Transcripts:
- ZBTB20:ENST00000675478.1:c.-455-23903A>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.549076
- REMM: 0.549
- Frequency Data:
- gnomAD_G_AMR: 0.0261%
- gnomAD_G_NFE: 0.0103%
- Transcripts:
- ZBTB20:ENST00000675478.1:c.-343+27590G>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.507803
- REMM: 0.508
- Frequency Data:
- gnomAD_G_AFR: 0.0024%
- gnomAD_G_AMR: 0.0262%
- gnomAD_G_NFE: 0.0103%
- Transcripts:
- ZBTB20:ENST00000675478.1:c.-702-24956G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.633287
- REMM: 0.633
- Frequency Data:
- UK10K: 0.1190%
- gnomAD_G_AFR: 1.2164%
- gnomAD_G_AMR: 0.5495%
- gnomAD_G_NFE: 0.1015%
- Pathogenicity Data:
- Best Score: 0.399008
- REMM: 0.399
- Frequency Data:
- No frequency data
- Transcripts:
- ZBTB20:ENST00000675478.1:c.-255+53069G>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.362572
- REMM: 0.363
- Frequency Data:
- UK10K: 0.0264%
- gnomAD_G_AFR: 0.0024%
- gnomAD_G_AMR: 0.0131%
- gnomAD_G_NFE: 0.0088%
- Transcripts:
- ZBTB20:ENST00000675478.1:c.-295+69939G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.35481
- REMM: 0.355
- Frequency Data:
- UK10K: 0.0529%
- gnomAD_G_AFR: 0.0337%
- gnomAD_G_AMR: 0.1700%
- gnomAD_G_NFE: 0.1015%
- gnomAD_G_SAS: 0.1039%
- Pathogenicity Data:
- Best Score: 0.350775
- REMM: 0.351
- Frequency Data:
- gnomAD_G_AFR: 0.2289%
- gnomAD_G_AMR: 0.0758%
- gnomAD_G_EAS: 0.2064%
- gnomAD_G_NFE: 0.0894%
- gnomAD_G_SAS: 0.2890%
- Transcripts:
- ZBTB20:ENST00000675478.1:c.-507+6624C>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.462183
- REMM: 0.462
- Frequency Data:
- UK10K: 0.1058%
- gnomAD_G_AFR: 1.2168%
- gnomAD_G_AMR: 0.5503%
- gnomAD_G_NFE: 0.1016%
- Pathogenicity Data:
- Best Score: 0.29982
- REMM: 0.300
- Frequency Data:
- No frequency data
- Transcripts:
- ZBTB20:ENST00000675478.1:c.-702-23129del:p.(=)
- Pathogenicity Data:
- Best Score: 0.683732
- REMM: 0.684
- Frequency Data:
- gnomAD_G_AFR: 1.6501%
- gnomAD_G_AMR: 1.0522%
- gnomAD_G_EAS: 0.6927%
- gnomAD_G_NFE: 0.6019%
- gnomAD_G_SAS: 0.0904%
- Transcripts:
- ZBTB20:ENST00000675478.1:c.-416-29914del:p.(=)
- Pathogenicity Data:
- Best Score: 0.281025
- REMM: 0.281
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.385819
- REMM: 0.386
- Frequency Data:
- gnomAD_G_AFR: 1.2329%
- gnomAD_G_AMR: 0.3933%
- gnomAD_G_NFE: 0.0954%
- Pathogenicity Data:
- Best Score: 0.257171
- REMM: 0.257
- Frequency Data:
- No frequency data
- Transcripts:
- ZBTB20:ENST00000675478.1:c.-455-20265T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.22724
- REMM: 0.227
- Frequency Data:
- gnomAD_G_NFE: 0.0015%
- Pathogenicity Data:
- Best Score: 0.217943
- REMM: 0.218
- Frequency Data:
- gnomAD_G_AFR: 0.2590%
- gnomAD_G_AMR: 0.0598%
- gnomAD_G_NFE: 0.0186%
- gnomAD_G_SAS: 0.0497%
- Pathogenicity Data:
- Best Score: 0.284688
- REMM: 0.285
- Frequency Data:
- gnomAD_G_AFR: 0.3758%
- gnomAD_G_AMR: 1.3139%
- gnomAD_G_EAS: 0.9227%
- gnomAD_G_NFE: 1.0638%
- gnomAD_G_SAS: 0.9339%
- Transcripts:
- ZBTB20:ENST00000675478.1:c.-343+52749A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.177604
- REMM: 0.178
- Frequency Data:
- No frequency data
- Transcripts:
- ZBTB20:ENST00000675478.1:c.-507+34926del:p.(=)
- Pathogenicity Data:
- Best Score: 0.220237
- REMM: 0.220
- Frequency Data:
- gnomAD_G_AFR: 0.8957%
- gnomAD_G_AMR: 0.0396%
- gnomAD_G_NFE: 0.0178%
- Pathogenicity Data:
- Best Score: 0.172204
- REMM: 0.172
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.320587
- REMM: 0.321
- Frequency Data:
- UK10K: 0.4232%
- gnomAD_G_AFR: 1.5967%
- gnomAD_G_AMR: 0.7194%
- gnomAD_G_NFE: 0.1064%
- gnomAD_G_SAS: 0.0215%
- Transcripts:
- ZBTB20:ENST00000675478.1:c.-416-16018A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.357485
- REMM: 0.357
- Frequency Data:
- gnomAD_G_AFR: 0.1626%
- gnomAD_G_AMR: 0.3881%
- gnomAD_G_NFE: 0.5044%
- gnomAD_G_SAS: 1.7587%
- Transcripts:
- ZBTB20:ENST00000675478.1:c.-294-86599del:p.(=)
- Pathogenicity Data:
- Best Score: 0.0647365
- REMM: 0.065
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.0466758
- REMM: 0.047
- Frequency Data:
- No frequency data
- Transcripts:
- ZBTB20:ENST00000675478.1:c.-254-20021del:p.(=)
- Pathogenicity Data:
- Best Score: 0.0405504
- REMM: 0.041
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.0222397
- REMM: 0.022
- Frequency Data:
- No frequency data
- Transcripts:
- ZBTB20:ENST00000675478.1:c.-295+23066G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0114841
- REMM: 0.011
- Frequency Data:
- No frequency data
- Transcripts:
- ZBTB20:ENST00000675478.1:c.-702-19527A>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.00390476
- REMM: 0.004
- Frequency Data:
- UK10K: 0.0132%
- gnomAD_G_AFR: 0.0048%
- gnomAD_G_AMR: 0.0131%
- gnomAD_G_NFE: 0.0295%
- Pathogenicity Data:
- Best Score: 0.0042
- REMM: 0.004
- Frequency Data:
- UK10K: 0.6083%
- gnomAD_G_AFR: 0.1756%
- gnomAD_G_AMR: 0.5823%
- gnomAD_G_NFE: 0.8438%
- gnomAD_G_SAS: 0.5599%
- Pathogenicity Data:
- Best Score: 4.0E-4
- REMM: 0.000
- Frequency Data:
- gnomAD_G_AFR: 0.0452%
- gnomAD_G_AMR: 0.0792%
- gnomAD_G_NFE: 0.1041%
- gnomAD_G_SAS: 0.6897%
- Transcripts:
- ZBTB20:ENST00000675478.1:c.-343+52762A>G:p.(=)
- Pathogenicity Data:
- Best Score: 2.0E-4
- REMM: 0.000
- Frequency Data:
- gnomAD_G_AFR: 1.1746%
- gnomAD_G_AMR: 1.6462%
- gnomAD_G_EAS: 1.2108%
- gnomAD_G_NFE: 1.3199%
- gnomAD_G_SAS: 1.3523%
- Transcripts:
- ZBTB20:ENST00000675478.1:c.-255+33659G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- UK10K: 0.9257%
- gnomAD_G_AFR: 0.2286%
- gnomAD_G_AMR: 0.3007%
- gnomAD_G_NFE: 0.6381%
- gnomAD_G_SAS: 0.5185%
- Transcripts:
- ZBTB20:ENST00000675478.1:c.-343+47755C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- No frequency data
- Transcripts:
- ZBTB20:ENST00000675478.1:c.-343+22993T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- No frequency data
- Transcripts:
- ZBTB20:ENST00000675478.1:c.-417+41027A>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- No frequency data
- Transcripts:
- ZBTB20:ENST00000675478.1:c.-417+41017A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- No frequency data
- Transcripts:
- ZBTB20:ENST00000675478.1:c.-455-22461A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- gnomAD_G_AFR: 0.0421%
- gnomAD_G_AMR: 0.0300%
- gnomAD_G_NFE: 0.0094%
- gnomAD_G_SAS: 0.0555%
- Transcripts:
- ZBTB20:ENST00000675478.1:c.-507+32450A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- UK10K: 0.1058%
- gnomAD_G_AFR: 1.2434%
- gnomAD_G_AMR: 0.6926%
- gnomAD_G_NFE: 0.1045%
- Transcripts:
- ZBTB20:ENST00000675478.1:c.-702-2277A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- UK10K: 0.0926%
- gnomAD_G_AFR: 1.2220%
- gnomAD_G_AMR: 0.5507%
- gnomAD_G_NFE: 0.1031%
- Phenotypic similarity 0.565 to Growth delay due to insulin-like growth factor I resistance associated with IGF1R.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0006610, Wide intermamillary distance
- HP:0006625, Multifocal breast carcinoma - HP:0006610, Wide intermamillary distance
- Phenotypic similarity 0.288 to mouse mutant involving IGF1R.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0004289, abnormal bony labyrinth
- HP:0006625, Multifocal breast carcinoma - MP:0004289, abnormal bony labyrinth
- Proximity score 0.503 in interactome to FGF17 and phenotypic similarity 0.620 to Kallmann syndrome associated with FGF17.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003187, Breast hypoplasia
- HP:0006625, Multifocal breast carcinoma - HP:0003187, Breast hypoplasia
- Known diseases:
- OMIM:270450 Insulin-like growth factor I, resistance to - autosomal dominant/recessive
- ORPHA:73273 Growth delay due to insulin-like growth factor I resistance - autosomal dominant/recessive
AUTOSOMAL_DOMINANT
Exomiser Score: 0.838 (p=3.2E-3)
Phenotype Score: 0.565
Variant Score: 0.987
- Phenotype matches to diseases consistent with this MOI:
- Phenotypic similarity 0.565 to ORPHA:73273 Growth delay due to insulin-like growth factor I resistance
- Phenotypic similarity 0.559 to OMIM:270450 Insulin-like growth factor I, resistance to
- Transcripts:
- IGF1R:ENST00000650285.1:c.94+1045G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.987181
- REMM: 0.987
- Frequency Data:
- gnomAD_G_AFR: 0.0048%
- gnomAD_G_NFE: 0.0015%
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.778 (p=4.4E-3)
Phenotype Score: 0.565
Variant Score: 0.944
- Phenotype matches to diseases consistent with this MOI:
- Phenotypic similarity 0.565 to ORPHA:73273 Growth delay due to insulin-like growth factor I resistance
- Phenotypic similarity 0.559 to OMIM:270450 Insulin-like growth factor I, resistance to
- Transcripts:
- IGF1R:ENST00000650285.1:c.94+1045G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.987181
- REMM: 0.987
- Frequency Data:
- gnomAD_G_AFR: 0.0048%
- gnomAD_G_NFE: 0.0015%
- Transcripts:
- IGF1R:ENST00000650285.1:c.*5758_*5761del:p.(=)
- Pathogenicity Data:
- Best Score: 0.903938
- REMM: 0.904
- Frequency Data:
- gnomAD_E_AFR: 0.0257%
- Pathogenicity Data:
- Best Score: 0.687501
- REMM: 0.688
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.674467
- REMM: 0.674
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.62437
- REMM: 0.624
- Frequency Data:
- No frequency data
- Transcripts:
- IGF1R:ENST00000650285.1:c.641-68833A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.755899
- REMM: 0.756
- Frequency Data:
- gnomAD_G_AFR: 0.9847%
- gnomAD_G_AMR: 0.0458%
- gnomAD_G_NFE: 0.0015%
- Transcripts:
- IGF1R:ENST00000650285.1:c.94+23775_94+23776del:p.(=)
- Pathogenicity Data:
- Best Score: 0.804677
- REMM: 0.805
- Frequency Data:
- gnomAD_G_AFR: 1.3043%
- gnomAD_G_AMR: 0.1439%
- gnomAD_G_NFE: 0.0044%
- gnomAD_G_SAS: 0.0207%
- Transcripts:
- IGF1R:ENST00000650285.1:c.95-14410C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.811536
- REMM: 0.812
- Frequency Data:
- gnomAD_G_AFR: 1.3884%
- gnomAD_G_AMR: 0.1634%
- gnomAD_G_NFE: 0.0029%
- gnomAD_G_SAS: 0.0207%
- Transcripts:
- IGF1R:ENST00000650285.1:c.641-78118A>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.880718
- REMM: 0.881
- Frequency Data:
- UK10K: 1.4017%
- gnomAD_G_AFR: 0.2359%
- gnomAD_G_AMR: 1.2289%
- gnomAD_G_EAS: 0.0386%
- gnomAD_G_NFE: 1.4895%
- gnomAD_G_SAS: 0.9516%
- Pathogenicity Data:
- Best Score: 0.465132
- REMM: 0.465
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.465132
- REMM: 0.465
- Frequency Data:
- No frequency data
- Transcripts:
- IGF1R:ENST00000650285.1:c.641-45821T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.50931
- REMM: 0.509
- Frequency Data:
- gnomAD_G_AFR: 0.6721%
- gnomAD_G_AMR: 0.0256%
- Pathogenicity Data:
- Best Score: 0.433519
- REMM: 0.434
- Frequency Data:
- No frequency data
- Transcripts:
- IGF1R:ENST00000650285.1:c.95-6237_95-6235del:p.(=)
- Pathogenicity Data:
- Best Score: 0.432056
- REMM: 0.432
- Frequency Data:
- No frequency data
- Transcripts:
- IGF1R:ENST00000650285.1:c.95-6237_95-6233del:p.(=)
- Pathogenicity Data:
- Best Score: 0.432056
- REMM: 0.432
- Frequency Data:
- No frequency data
- Transcripts:
- IGF1R:ENST00000650285.1:c.640+25796A>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.938341
- REMM: 0.938
- Frequency Data:
- UK10K: 1.5340%
- gnomAD_G_AFR: 0.2912%
- gnomAD_G_AMR: 1.0985%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 1.6117%
- gnomAD_G_SAS: 1.3087%
- Transcripts:
- IGF1R:ENST00000650285.1:c.-57_-52del:p.(=)
- Pathogenicity Data:
- Best Score: 0.386548
- REMM: 0.387
- Frequency Data:
- gnomAD_E_AFR: 0.1182%
- gnomAD_E_AMR: 0.0110%
- gnomAD_E_EAS: 0.0034%
- gnomAD_E_NFE: 0.0004%
- Transcripts:
- IGF1R:ENST00000650285.1::
- Pathogenicity Data:
- Best Score: 0.723421
- REMM: 0.723
- Frequency Data:
- gnomAD_G_AFR: 1.5128%
- gnomAD_G_AMR: 0.1373%
- gnomAD_G_NFE: 0.0029%
- gnomAD_G_SAS: 0.0207%
- Transcripts:
- IGF1R:ENST00000650285.1:c.640+75852del:p.(=)
- Pathogenicity Data:
- Best Score: 0.331813
- REMM: 0.332
- Frequency Data:
- No frequency data
- Transcripts:
- IGF1R:ENST00000650285.1::
- Pathogenicity Data:
- Best Score: 0.569191
- REMM: 0.569
- Frequency Data:
- gnomAD_G_AFR: 1.4293%
- gnomAD_G_AMR: 0.1965%
- gnomAD_G_EAS: 0.0196%
- gnomAD_G_NFE: 0.0406%
- gnomAD_G_SAS: 0.0214%
- Pathogenicity Data:
- Best Score: 0.384233
- REMM: 0.384
- Frequency Data:
- gnomAD_G_AFR: 1.0344%
- gnomAD_G_AMR: 0.0460%
- gnomAD_G_NFE: 0.0015%
- Transcripts:
- IGF1R:ENST00000650285.1:c.95-28640del:p.(=)
- Pathogenicity Data:
- Best Score: 0.287512
- REMM: 0.288
- Frequency Data:
- No frequency data
- Transcripts:
- IGF1R:ENST00000650285.1:c.641-45941C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.300574
- REMM: 0.301
- Frequency Data:
- gnomAD_G_AFR: 0.9035%
- gnomAD_G_AMR: 0.0288%
- gnomAD_G_NFE: 0.0016%
- Pathogenicity Data:
- Best Score: 0.151494
- REMM: 0.151
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.102121
- REMM: 0.102
- Frequency Data:
- gnomAD_G_AFR: 1.0406%
- gnomAD_G_AMR: 0.2884%
- gnomAD_G_NFE: 0.0059%
- Transcripts:
- IGF1R:ENST00000650285.1:c.95-18327del:p.(=)
- Pathogenicity Data:
- Best Score: 0.0459437
- REMM: 0.046
- Frequency Data:
- No frequency data
- Transcripts:
- IGF1R:ENST00000650285.1::
- Pathogenicity Data:
- Best Score: 0.053621
- REMM: 0.054
- Frequency Data:
- gnomAD_G_AFR: 1.2508%
- gnomAD_G_AMR: 0.2232%
- gnomAD_G_NFE: 0.0177%
- gnomAD_G_SAS: 0.0208%
- Transcripts:
- IGF1R:ENST00000650285.1:c.*977C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.124942
- REMM: 0.125
- Frequency Data:
- UK10K: 0.0397%
- gnomAD_G_AFR: 1.9771%
- gnomAD_G_AMR: 0.2027%
- gnomAD_G_EAS: 0.0387%
- gnomAD_G_NFE: 0.0162%
- gnomAD_G_SAS: 0.0207%
- Transcripts:
- IGF1R:ENST00000650285.1:c.*6785A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0161873
- REMM: 0.016
- Frequency Data:
- gnomAD_E_AFR: 0.0540%
- gnomAD_E_NFE: 0.0021%
- gnomAD_G_AFR: 0.0298%
- gnomAD_G_SAS: 0.0209%
- Transcripts:
- IGF1R:ENST00000650285.1:c.3722+35G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.00666032
- REMM: 0.007
- Frequency Data:
- gnomAD_E_AFR: 0.0209%
- gnomAD_E_AMR: 0.0022%
- gnomAD_E_NFE: 0.0001%
- gnomAD_E_SAS: 0.0012%
- gnomAD_G_AFR: 0.0024%
- Pathogenicity Data:
- Best Score: 0.00547143
- REMM: 0.005
- Frequency Data:
- gnomAD_G_AFR: 0.9701%
- gnomAD_G_AMR: 0.0458%
- gnomAD_G_NFE: 0.0015%
- Transcripts:
- IGF1R:ENST00000650285.1:c.640+90212C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.00352857
- REMM: 0.004
- Frequency Data:
- UK10K: 0.0132%
- gnomAD_G_AFR: 0.0024%
- gnomAD_G_AMR: 0.0788%
- gnomAD_G_NFE: 0.0074%
- gnomAD_G_SAS: 0.0423%
- Transcripts:
- IGF1R:ENST00000650285.1:c.640+18776C>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.00253571
- REMM: 0.003
- Frequency Data:
- gnomAD_G_AFR: 0.1277%
- gnomAD_G_AMR: 0.0916%
- gnomAD_G_SAS: 0.0208%
- Transcripts:
- IGF1R:ENST00000650285.1:c.640+39666C>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.00114286
- REMM: 0.001
- Frequency Data:
- gnomAD_G_NFE: 0.0044%
- Transcripts:
- IGF1R:ENST00000650285.1:c.641-22130C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.00142222
- REMM: 0.001
- Frequency Data:
- gnomAD_G_AFR: 1.0430%
- gnomAD_G_AMR: 0.0654%
- gnomAD_G_NFE: 0.0015%
- Transcripts:
- IGF1R:ENST00000650285.1:c.95-13768T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- gnomAD_G_AFR: 1.3193%
- gnomAD_G_AMR: 0.1439%
- gnomAD_G_NFE: 0.0029%
- gnomAD_G_SAS: 0.0207%
- Transcripts:
- IGF1R:ENST00000650285.1:c.640+56558C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- UK10K: 0.7405%
- gnomAD_G_AFR: 0.1323%
- gnomAD_G_AMR: 0.4967%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 1.1291%
- gnomAD_G_SAS: 0.8710%
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- No frequency data
- Transcripts:
- IGF1R:ENST00000650285.1:c.3722+2114A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- gnomAD_G_AFR: 1.1910%
- gnomAD_G_AMR: 0.1176%
- gnomAD_G_NFE: 0.0029%
- Phenotypic similarity 0.620 to Kallmann syndrome associated with CHD7.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003187, Breast hypoplasia
- HP:0006625, Multifocal breast carcinoma - HP:0003187, Breast hypoplasia
- Phenotypic similarity 0.330 to mouse mutant involving CHD7.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0011861, increased cranium height
- HP:0006625, Multifocal breast carcinoma - MP:0011861, increased cranium height
- Phenotypic similarity 0.366 to zebrafish mutant involving CHD7.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - ZP:0008903, vertebra has fewer parts of type neural spine, abnormal
- HP:0006625, Multifocal breast carcinoma - ZP:0008903, vertebra has fewer parts of type neural spine, abnormal
- Proximity score 0.501 in interactome to FGF8 and phenotypic similarity 0.620 to Kallmann syndrome associated with FGF8.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003187, Breast hypoplasia
- HP:0006625, Multifocal breast carcinoma - HP:0003187, Breast hypoplasia
- Proximity score 0.501 in interactome to FGF8 and phenotypic similarity 0.275 to fish mutant of FGF8.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - ZP:0010380, chondrocranium bilateral symmetry, abnormal
- HP:0006625, Multifocal breast carcinoma - ZP:0010380, chondrocranium bilateral symmetry, abnormal
- Known diseases:
- OMIM:214800 CHARGE syndrome - autosomal dominant
- OMIM:612370 Hypogonadotropic hypogonadism 5 with or without anosmia - autosomal dominant
- ORPHA:138 CHARGE syndrome - autosomal dominant
- ORPHA:39041 Omenn syndrome - autosomal recessive
- ORPHA:432 Normosmic congenital hypogonadotropic hypogonadism - autosomal dominant
- ORPHA:478 Kallmann syndrome - autosomal dominant
AUTOSOMAL_DOMINANT
Exomiser Score: 0.808 (p=3.8E-3)
Phenotype Score: 0.620
Variant Score: 0.902
- Phenotype matches to diseases consistent with this MOI:
- Phenotypic similarity 0.620 to ORPHA:478 Kallmann syndrome
- Phenotypic similarity 0.616 to ORPHA:432 Normosmic congenital hypogonadotropic hypogonadism
- Phenotypic similarity 0.471 to ORPHA:138 CHARGE syndrome
- Phenotypic similarity 0.465 to OMIM:214800 CHARGE syndrome
- Pathogenicity Data:
- Best Score: 0.901575
- REMM: 0.902
- Frequency Data:
- No frequency data
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.530 (p=8.1E-2)
Phenotype Score: 0.501
Variant Score: 0.892
- Pathogenicity Data:
- Best Score: 0.901575
- REMM: 0.902
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.883043
- REMM: 0.883
- Frequency Data:
- No frequency data
- Transcripts:
- CHD7:ENST00000423902.7:c.-175+15923del:p.(=)
- Pathogenicity Data:
- Best Score: 0.870319
- REMM: 0.870
- Frequency Data:
- gnomAD_G_AMR: 0.0066%
- gnomAD_G_NFE: 0.0059%
- gnomAD_G_SAS: 0.0207%
- Transcripts:
- CHD7:ENST00000423902.7:c.-175+1317del:p.(=)
- Pathogenicity Data:
- Best Score: 0.844681
- REMM: 0.845
- Frequency Data:
- No frequency data
- Transcripts:
- CHD7:ENST00000423902.7:c.-175+24481G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.831813
- REMM: 0.832
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.815218
- REMM: 0.815
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.787386
- REMM: 0.787
- Frequency Data:
- No frequency data
- Transcripts:
- CHD7:ENST00000423902.7:c.-175+1332G>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.727893
- REMM: 0.728
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.646713
- REMM: 0.647
- Frequency Data:
- gnomAD_G_AFR: 0.0024%
- gnomAD_G_AMR: 0.0066%
- gnomAD_G_NFE: 0.0059%
- gnomAD_G_SAS: 0.0208%
- Pathogenicity Data:
- Best Score: 0.623988
- REMM: 0.624
- Frequency Data:
- No frequency data
- Transcripts:
- CHD7:ENST00000423902.7::
- Pathogenicity Data:
- Best Score: 0.623258
- REMM: 0.623
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.582245
- REMM: 0.582
- Frequency Data:
- No frequency data
- Transcripts:
- CHD7:ENST00000423902.7::
- Pathogenicity Data:
- Best Score: 0.325885
- REMM: 0.326
- Frequency Data:
- No frequency data
- Transcripts:
- CHD7:ENST00000423902.7::
- Pathogenicity Data:
- Best Score: 0.108459
- REMM: 0.108
- Frequency Data:
- No frequency data
- Transcripts:
- CHD7:ENST00000423902.7:c.1666-12150A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0203944
- REMM: 0.020
- Frequency Data:
- No frequency data
- Proximity score 0.503 in interactome to PRKN and phenotypic similarity 0.998 to Ovarian cancer, somatic associated with PRKN.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003002, Breast carcinoma
- HP:0006625, Multifocal breast carcinoma - HP:0003002, Breast carcinoma
- Proximity score 0.503 in interactome to PRKN and phenotypic similarity 0.368 to mouse mutant of PRKN.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0000160, kyphosis
- HP:0006625, Multifocal breast carcinoma - MP:0000160, kyphosis
- Known diseases:
- OMIM:109150 Machado-Joseph disease - autosomal dominant
- OMIM:168600 Parkinson disease, late-onset, susceptibility to (susceptibility)
- ORPHA:276238 Machado-Joseph disease type 1 - autosomal dominant
- ORPHA:276241 Machado-Joseph disease type 2 - autosomal dominant
- ORPHA:276244 Machado-Joseph disease type 3 - autosomal dominant
AUTOSOMAL_DOMINANT
Exomiser Score: 0.754 (p=5.4E-3)
Phenotype Score: 0.503
Variant Score: 1.000
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- No frequency data
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.002 (p=6.2E-1)
Phenotype Score: 0.251
Variant Score: 0.509
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.0183833
- REMM: 0.018
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.00815317
- REMM: 0.008
- Frequency Data:
- gnomAD_G_AFR: 0.0024%
- gnomAD_G_NFE: 0.0059%
- Transcripts:
- ATXN3:ENST00000644486.2:c.873-3252G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- UK10K: 1.0844%
- gnomAD_G_AFR: 0.2289%
- gnomAD_G_AMR: 0.5440%
- gnomAD_G_EAS: 0.0194%
- gnomAD_G_NFE: 1.4503%
- gnomAD_G_SAS: 0.1247%
- Phenotypic similarity 0.404 to Coffin-Siris syndrome 1 associated with ARID1B.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0000879, Short sternum
- HP:0006625, Multifocal breast carcinoma - HP:0000879, Short sternum
- Proximity score 0.504 in interactome to TWIST1 and phenotypic similarity 0.998 to Saethre-Chotzen syndrome with or without eyelid anomalies associated with TWIST1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003002, Breast carcinoma
- HP:0006625, Multifocal breast carcinoma - HP:0003002, Breast carcinoma
- Proximity score 0.504 in interactome to TWIST1 and phenotypic similarity 0.356 to mouse mutant of TWIST1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0000137, abnormal vertebrae morphology
- HP:0006625, Multifocal breast carcinoma - MP:0000137, abnormal vertebrae morphology
- Proximity score 0.504 in interactome to TWIST1 and phenotypic similarity 0.257 to fish mutant of TWIST1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - ZP:0007632, notochord absent, abnormal
- HP:0006625, Multifocal breast carcinoma - ZP:0007632, notochord absent, abnormal
- Known diseases:
- OMIM:135900 Coffin-Siris syndrome 1 - autosomal dominant
- ORPHA:1465 Coffin-Siris syndrome - autosomal dominant
- ORPHA:251056 6q25 microdeletion syndrome (CNV)
AUTOSOMAL_DOMINANT
Exomiser Score: 0.752 (p=5.6E-3)
Phenotype Score: 0.504
Variant Score: 0.998
- Phenotype matches to diseases consistent with this MOI:
- Phenotypic similarity 0.404 to OMIM:135900 Coffin-Siris syndrome 1
- Transcripts:
- ARID1B:ENST00000636930.2:c.2248-3397C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.997667
- REMM: 0.998
- Frequency Data:
- No frequency data
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.154 (p=2.2E-1)
Phenotype Score: 0.252
Variant Score: 0.976
- Transcripts:
- ARID1B:ENST00000636930.2:c.2248-3397C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.997667
- REMM: 0.998
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.989565
- REMM: 0.990
- Frequency Data:
- gnomAD_G_AFR: 0.0144%
- gnomAD_G_AMR: 0.0261%
- gnomAD_G_NFE: 0.0132%
- gnomAD_G_SAS: 0.2279%
- Transcripts:
- ARID1B:ENST00000636930.2::
- Pathogenicity Data:
- Best Score: 0.945433
- REMM: 0.945
- Frequency Data:
- UK10K: 0.0264%
- gnomAD_G_AFR: 0.0337%
- gnomAD_G_AMR: 0.0784%
- gnomAD_G_EAS: 0.1347%
- gnomAD_G_NFE: 0.0838%
- gnomAD_G_SAS: 0.1034%
- Transcripts:
- ARID1B:ENST00000636930.2::
- Pathogenicity Data:
- Best Score: 0.991357
- REMM: 0.991
- Frequency Data:
- UK10K: 0.4099%
- gnomAD_G_AFR: 0.6209%
- gnomAD_G_AMR: 0.4250%
- gnomAD_G_NFE: 0.6219%
- gnomAD_G_SAS: 0.1035%
- Pathogenicity Data:
- Best Score: 0.824239
- REMM: 0.824
- Frequency Data:
- No frequency data
- Transcripts:
- ARID1B:ENST00000636930.2:c.2492-2153T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.886736
- REMM: 0.887
- Frequency Data:
- UK10K: 0.4099%
- gnomAD_G_AFR: 0.0553%
- gnomAD_G_AMR: 0.2876%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 0.4396%
- gnomAD_G_SAS: 0.3314%
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- gnomAD_E_AFR: 0.4990%
- gnomAD_E_AMR: 0.0714%
- gnomAD_E_NFE: 0.0712%
- gnomAD_E_SAS: 0.0187%
- gnomAD_G_AFR: 0.5985%
- gnomAD_G_AMR: 0.1684%
- gnomAD_G_NFE: 0.0653%
- gnomAD_G_SAS: 0.0240%
- Pathogenicity Data:
- Best Score: 0.751781
- REMM: 0.752
- Frequency Data:
- No frequency data
- Transcripts:
- ARID1B:ENST00000636930.2::
- Pathogenicity Data:
- Best Score: 0.978949
- REMM: 0.979
- Frequency Data:
- UK10K: 0.1058%
- gnomAD_G_AFR: 0.0337%
- gnomAD_G_AMR: 0.2484%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 0.2073%
- gnomAD_G_SAS: 1.0762%
- Transcripts:
- ARID1B:ENST00000636930.2:c.2491+2611C>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.700694
- REMM: 0.701
- Frequency Data:
- gnomAD_G_AMR: 0.0131%
- gnomAD_G_NFE: 0.0059%
- gnomAD_G_SAS: 0.0207%
- Pathogenicity Data:
- Best Score: 0.688755
- REMM: 0.689
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.655776
- REMM: 0.656
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.64699
- REMM: 0.647
- Frequency Data:
- gnomAD_G_AFR: 0.1193%
- gnomAD_G_AMR: 0.0460%
- gnomAD_G_NFE: 0.0153%
- Transcripts:
- ARID1B:ENST00000636930.2:c.2137-4547A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.597467
- REMM: 0.597
- Frequency Data:
- gnomAD_G_NFE: 0.0059%
- Transcripts:
- ARID1B:ENST00000636930.2:c.2137-4537G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.571755
- REMM: 0.572
- Frequency Data:
- UK10K: 0.0132%
- gnomAD_G_AFR: 0.0024%
- gnomAD_G_AMR: 0.0262%
- gnomAD_G_NFE: 0.0059%
- Pathogenicity Data:
- Best Score: 0.517572
- REMM: 0.518
- Frequency Data:
- No frequency data
- Transcripts:
- ARID1B:ENST00000636930.2:c.2248-74487T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.642367
- REMM: 0.642
- Frequency Data:
- UK10K: 0.1322%
- gnomAD_G_AFR: 0.0529%
- gnomAD_G_AMR: 0.4507%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 0.2794%
- gnomAD_G_SAS: 0.9975%
- Transcripts:
- ARID1B:ENST00000636930.2:c.2247+41423C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.650971
- REMM: 0.651
- Frequency Data:
- UK10K: 0.1322%
- gnomAD_E_AFR: 0.0695%
- gnomAD_E_AMR: 0.2428%
- gnomAD_E_EAS: 0.0141%
- gnomAD_E_NFE: 0.2409%
- gnomAD_E_SAS: 0.7838%
- gnomAD_G_AFR: 0.0534%
- gnomAD_G_AMR: 0.4304%
- gnomAD_G_EAS: 0.0388%
- gnomAD_G_NFE: 0.2693%
- gnomAD_G_SAS: 1.0820%
- Pathogenicity Data:
- Best Score: 0.441992
- REMM: 0.442
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.40499
- REMM: 0.405
- Frequency Data:
- No frequency data
- Transcripts:
- ARID1B:ENST00000636930.2:c.2581+3963del:p.(=)
- Pathogenicity Data:
- Best Score: 0.379681
- REMM: 0.380
- Frequency Data:
- No frequency data
- Transcripts:
- ARID1B:ENST00000636930.2::
- Pathogenicity Data:
- Best Score: 0.379504
- REMM: 0.380
- Frequency Data:
- No frequency data
- Transcripts:
- ARID1B:ENST00000636930.2::
- Pathogenicity Data:
- Best Score: 0.344243
- REMM: 0.344
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.266487
- REMM: 0.266
- Frequency Data:
- gnomAD_G_AFR: 0.0506%
- gnomAD_G_AMR: 0.1147%
- gnomAD_G_EAS: 0.1118%
- gnomAD_G_NFE: 0.1615%
- gnomAD_G_SAS: 0.0448%
- Pathogenicity Data:
- Best Score: 0.191457
- REMM: 0.191
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.195246
- REMM: 0.195
- Frequency Data:
- gnomAD_G_AFR: 0.0850%
- gnomAD_G_AMR: 0.1845%
- gnomAD_G_EAS: 0.1024%
- gnomAD_G_NFE: 0.2395%
- gnomAD_G_SAS: 0.0273%
- Transcripts:
- ARID1B:ENST00000636930.2:c.2762-1222A>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.186025
- REMM: 0.186
- Frequency Data:
- No frequency data
- Transcripts:
- ARID1B:ENST00000636930.2:c.2762-1029G>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.178817
- REMM: 0.179
- Frequency Data:
- No frequency data
- Transcripts:
- ARID1B:ENST00000636930.2:c.2762-1407T>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.171476
- REMM: 0.171
- Frequency Data:
- No frequency data
- Transcripts:
- ARID1B:ENST00000636930.2:c.3090-2341C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.653213
- REMM: 0.653
- Frequency Data:
- UK10K: 0.0529%
- gnomAD_G_AFR: 0.0241%
- gnomAD_G_AMR: 0.2094%
- gnomAD_G_NFE: 0.1088%
- gnomAD_G_SAS: 1.8911%
- Pathogenicity Data:
- Best Score: 0.148588
- REMM: 0.149
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.148588
- REMM: 0.149
- Frequency Data:
- No frequency data
- Transcripts:
- ARID1B:ENST00000636930.2:c.2762-1378G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.14728
- REMM: 0.147
- Frequency Data:
- No frequency data
- Transcripts:
- ARID1B:ENST00000636930.2:c.2762-1373C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.140177
- REMM: 0.140
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.175966
- REMM: 0.176
- Frequency Data:
- gnomAD_G_AFR: 0.4161%
- gnomAD_G_AMR: 0.5802%
- gnomAD_G_EAS: 0.8152%
- gnomAD_G_NFE: 1.0619%
- Pathogenicity Data:
- Best Score: 0.154232
- REMM: 0.154
- Frequency Data:
- gnomAD_G_AFR: 0.8980%
- gnomAD_G_AMR: 0.7605%
- gnomAD_G_EAS: 0.3745%
- gnomAD_G_NFE: 0.5283%
- gnomAD_G_SAS: 1.0903%
- Pathogenicity Data:
- Best Score: 0.103083
- REMM: 0.103
- Frequency Data:
- gnomAD_G_AFR: 0.0686%
- gnomAD_G_AMR: 0.1668%
- gnomAD_G_EAS: 0.0591%
- gnomAD_G_NFE: 0.2859%
- gnomAD_G_SAS: 0.1855%
- Transcripts:
- ARID1B:ENST00000636930.2:c.1986+35771G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0882837
- REMM: 0.088
- Frequency Data:
- UK10K: 0.0132%
- gnomAD_G_AFR: 0.0096%
- gnomAD_G_AMR: 0.0196%
- gnomAD_G_NFE: 0.0191%
- gnomAD_G_SAS: 0.0831%
- Pathogenicity Data:
- Best Score: 0.103083
- REMM: 0.103
- Frequency Data:
- gnomAD_G_AFR: 0.5769%
- gnomAD_G_AMR: 0.8618%
- gnomAD_G_EAS: 0.8865%
- gnomAD_G_NFE: 0.7641%
- gnomAD_G_SAS: 0.7428%
- Pathogenicity Data:
- Best Score: 0.0469798
- REMM: 0.047
- Frequency Data:
- gnomAD_G_AFR: 0.5888%
- gnomAD_G_AMR: 0.9143%
- gnomAD_G_NFE: 1.4280%
- gnomAD_G_SAS: 0.2609%
- Pathogenicity Data:
- Best Score: 0.00950397
- REMM: 0.010
- Frequency Data:
- UK10K: 0.1455%
- gnomAD_G_AFR: 0.0505%
- gnomAD_G_AMR: 0.4448%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 0.2822%
- gnomAD_G_SAS: 1.0145%
- Transcripts:
- ARID1B:ENST00000636930.2:c.1792-1472del:p.(=)
- Pathogenicity Data:
- Best Score: 0.00704325
- REMM: 0.007
- Frequency Data:
- No frequency data
- Transcripts:
- ARID1B:ENST00000636930.2:c.1791+15100del:p.(=)
- Pathogenicity Data:
- Best Score: 0.005
- REMM: 0.005
- Frequency Data:
- No frequency data
- Transcripts:
- ARID1B:ENST00000636930.2:c.2247+25564C>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.00489365
- REMM: 0.005
- Frequency Data:
- gnomAD_G_NFE: 0.0073%
- gnomAD_G_SAS: 0.0207%
- Transcripts:
- ARID1B:ENST00000636930.2:c.2247+15031G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.00529325
- REMM: 0.005
- Frequency Data:
- gnomAD_G_AFR: 0.7640%
- gnomAD_G_AMR: 1.0837%
- gnomAD_G_EAS: 0.0348%
- gnomAD_G_NFE: 0.5527%
- gnomAD_G_SAS: 1.5389%
- Pathogenicity Data:
- Best Score: 0.0017
- REMM: 0.002
- Frequency Data:
- No frequency data
- Transcripts:
- ARID1B:ENST00000636930.2:c.4480-640C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.00117302
- REMM: 0.001
- Frequency Data:
- UK10K: 1.5340%
- gnomAD_G_AFR: 0.2695%
- gnomAD_G_AMR: 0.7777%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 1.4143%
- gnomAD_G_SAS: 0.5182%
- Transcripts:
- ARID1B:ENST00000636930.2:c.2247+46410C>T:p.(=)
- Pathogenicity Data:
- Best Score: 1.42857E-4
- REMM: 0.000
- Frequency Data:
- UK10K: 0.1322%
- gnomAD_G_AFR: 0.0628%
- gnomAD_G_AMR: 0.4391%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 0.2752%
- gnomAD_G_SAS: 1.1051%
- Transcripts:
- ARID1B:ENST00000636930.2:c.2248-31873G>A:p.(=)
- Pathogenicity Data:
- Best Score: 1.11111E-4
- REMM: 0.000
- Frequency Data:
- UK10K: 0.1455%
- gnomAD_G_AFR: 0.0554%
- gnomAD_G_AMR: 0.4446%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 0.2705%
- gnomAD_G_SAS: 1.0382%
- Transcripts:
- ARID1B:ENST00000636930.2:c.1986+13943A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- UK10K: 0.0793%
- gnomAD_G_AFR: 0.0481%
- gnomAD_G_AMR: 0.2352%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 0.1881%
- gnomAD_G_SAS: 1.2220%
- Transcripts:
- ARID1B:ENST00000636930.2:c.2137-4549A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- gnomAD_G_NFE: 0.0044%
- Transcripts:
- ARID1B:ENST00000636930.2:c.2137-4548G>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- gnomAD_G_AFR: 0.0024%
- gnomAD_G_NFE: 0.0074%
- Transcripts:
- ARID1B:ENST00000636930.2:c.2137-4538T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- UK10K: 0.0132%
- gnomAD_G_AFR: 0.0168%
- gnomAD_G_AMR: 0.0654%
- gnomAD_G_EAS: 0.1736%
- gnomAD_G_NFE: 0.0162%
- Phenotypic similarity 0.274 to mouse mutant involving CFTR.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0002240, abnormal paranasal sinus morphology
- HP:0006625, Multifocal breast carcinoma - MP:0002240, abnormal paranasal sinus morphology
- Proximity score 0.501 in interactome to FOXA2 and phenotypic similarity 0.676 to Combined pituitary hormone deficiencies, genetic forms associated with FOXA2.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0010311, Aplasia/Hypoplasia of the breasts
- HP:0006625, Multifocal breast carcinoma - HP:0010311, Aplasia/Hypoplasia of the breasts
- Proximity score 0.501 in interactome to FOXA2 and phenotypic similarity 0.293 to mouse mutant of FOXA2.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0000932, absent notochord
- HP:0006625, Multifocal breast carcinoma - MP:0000932, absent notochord
- Known diseases:
- OMIM:167800 Pancreatitis, hereditary (susceptibility)
- OMIM:211400 Bronchiectasis with or without elevated sweat chloride 1, modifier of (susceptibility)
- OMIM:219700 Cystic fibrosis - autosomal recessive
- OMIM:277180 Congenital bilateral absence of vas deferens - autosomal recessive
- ORPHA:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation (susceptibility)
- ORPHA:48 Congenital bilateral absence of vas deferens - autosomal recessive
- ORPHA:586 Cystic fibrosis - autosomal recessive
- ORPHA:60033 Idiopathic bronchiectasis - autosomal dominant
- ORPHA:676 Hereditary chronic pancreatitis - autosomal dominant
AUTOSOMAL_DOMINANT
Exomiser Score: 0.752 (p=5.7E-3)
Phenotype Score: 0.501
Variant Score: 1.000
- Transcripts:
- CFTR:ENST00000003084.11:c.1040G>C:p.(Arg347Pro)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- gnomAD_E_NFE: 0.0054%
- gnomAD_G_AFR: 0.0024%
- gnomAD_G_NFE: 0.0029%
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.298 (p=1.6E-1)
Phenotype Score: 0.501
Variant Score: 0.786
- Transcripts:
- CFTR:ENST00000003084.11:c.1040G>C:p.(Arg347Pro)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- gnomAD_E_NFE: 0.0054%
- gnomAD_G_AFR: 0.0024%
- gnomAD_G_NFE: 0.0029%
- Transcripts:
- CFTR:ENST00000003084.11::
- Pathogenicity Data:
- Best Score: 0.593394
- REMM: 0.593
- Frequency Data:
- UK10K: 0.0529%
- gnomAD_G_AMR: 0.2332%
- gnomAD_G_NFE: 0.0729%
- gnomAD_G_SAS: 0.1979%
- Transcripts:
- CFTR:ENST00000003084.11:c.273+3492del:p.(=)
- Pathogenicity Data:
- Best Score: 0.443935
- REMM: 0.444
- Frequency Data:
- No frequency data
- Transcripts:
- CFTR:ENST00000003084.11:c.1393-2951del:p.(=)
- Pathogenicity Data:
- Best Score: 0.258695
- REMM: 0.259
- Frequency Data:
- No frequency data
- Transcripts:
- CFTR:ENST00000003084.11:c.274-4164C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0238909
- REMM: 0.024
- Frequency Data:
- No frequency data
- Transcripts:
- CFTR:ENST00000003084.11:c.3469-6181A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.018856
- REMM: 0.019
- Frequency Data:
- No frequency data
- Transcripts:
- CFTR:ENST00000003084.11:c.274-5595A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0160337
- REMM: 0.016
- Frequency Data:
- No frequency data
- Transcripts:
- CFTR:ENST00000003084.11:c.1584+5215T>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0085881
- REMM: 0.009
- Frequency Data:
- gnomAD_G_NFE: 0.0059%
- Transcripts:
- CFTR:ENST00000003084.11:c.274-1682A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.00721984
- REMM: 0.007
- Frequency Data:
- No frequency data
- Transcripts:
- CFTR:ENST00000003084.11:c.3873+3653T>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.00214286
- REMM: 0.002
- Frequency Data:
- gnomAD_G_NFE: 0.0044%
- Transcripts:
- CFTR:ENST00000003084.11:c.3367+894A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.00110278
- REMM: 0.001
- Frequency Data:
- UK10K: 0.8199%
- gnomAD_G_AFR: 0.1203%
- gnomAD_G_AMR: 0.0589%
- gnomAD_G_NFE: 0.6470%
- gnomAD_G_SAS: 0.0414%
- Transcripts:
- CFTR:ENST00000003084.11:c.1585-4416C>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- UK10K: 0.9389%
- gnomAD_G_AFR: 0.1667%
- gnomAD_G_AMR: 0.1510%
- gnomAD_G_NFE: 0.8710%
- gnomAD_G_SAS: 0.3744%
- Proximity score 0.501 in interactome to ERBB2 and phenotypic similarity 0.998 to Ovarian cancer, somatic associated with ERBB2.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003002, Breast carcinoma
- HP:0006625, Multifocal breast carcinoma - HP:0003002, Breast carcinoma
AUTOSOMAL_DOMINANT
Exomiser Score: 0.751 (p=5.7E-3)
Phenotype Score: 0.501
Variant Score: 1.000
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- No frequency data
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.603 (p=5.8E-2)
Phenotype Score: 0.501
Variant Score: 0.925
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.745508
- REMM: 0.746
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.734844
- REMM: 0.735
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- gnomAD_G_AFR: 0.4508%
- gnomAD_G_AMR: 0.6747%
- gnomAD_G_EAS: 1.2132%
- gnomAD_G_NFE: 1.0101%
- Pathogenicity Data:
- Best Score: 0.645984
- REMM: 0.646
- Frequency Data:
- gnomAD_G_AFR: 0.0224%
- gnomAD_G_AMR: 0.0398%
- gnomAD_G_EAS: 0.1579%
- gnomAD_G_NFE: 0.0564%
- gnomAD_G_SAS: 0.0631%
- Transcripts:
- MUC4:ENST00000463781.8:c.12616G>A:p.(Ala4206Thr)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- No frequency data
- Transcripts:
- MUC4:ENST00000463781.8:c.12613C>G:p.(His4205Asp)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- No frequency data
- Transcripts:
- MUC4:ENST00000463781.8:c.12568A>G:p.(Thr4190Ala)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- No frequency data
- Transcripts:
- MUC4:ENST00000463781.8:c.12496G>A:p.(Ala4166Thr)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- No frequency data
- Transcripts:
- MUC4:ENST00000463781.8:c.12491C>G:p.(Thr4164Ser)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- No frequency data
- Transcripts:
- MUC4:ENST00000463781.8:c.12157A>G:p.(Asn4053Asp)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- No frequency data
- Transcripts:
- MUC4:ENST00000463781.8:c.11991C>G:p.(His3997Gln)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- No frequency data
- Transcripts:
- MUC4:ENST00000463781.8:c.11759G>T:p.(Arg3920Leu)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- No frequency data
- Transcripts:
- MUC4:ENST00000463781.8:c.11258C>T:p.(Ala3753Val)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- No frequency data
- Transcripts:
- MUC4:ENST00000463781.8:c.11246G>A:p.(Ser3749Asn)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- No frequency data
- Transcripts:
- MUC4:ENST00000463781.8:c.11245A>G:p.(Ser3749Gly)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- No frequency data
- Transcripts:
- MUC4:ENST00000463781.8:c.7672G>A:p.(Ala2558Thr)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- No frequency data
- Transcripts:
- MUC4:ENST00000463781.8:c.5884C>T:p.(Pro1962Ser)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- No frequency data
- Transcripts:
- MUC4:ENST00000463781.8:c.3718G>T:p.(Ala1240Ser)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- No frequency data
- Transcripts:
- MUC4:ENST00000463781.8:c.3683A>G:p.(Asp1228Gly)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- No frequency data
- Transcripts:
- MUC4:ENST00000463781.8:c.3098A>C:p.(Glu1033Ala)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- No frequency data
- Transcripts:
- MUC4:ENST00000463781.8:c.8225C>G:p.(Thr2742Ser)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- gnomAD_E_NFE: 0.0001%
- Transcripts:
- MUC4:ENST00000463781.8:c.12554C>T:p.(Ala4185Val)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- gnomAD_G_AFR: 0.0127%
- gnomAD_G_AMR: 0.0092%
- gnomAD_G_EAS: 0.0392%
- gnomAD_G_NFE: 0.0063%
- gnomAD_G_SAS: 0.0327%
- Transcripts:
- MUC4:ENST00000463781.8:c.6895A>T:p.(Thr2299Ser)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- gnomAD_G_NFE: 0.0459%
- Transcripts:
- MUC4:ENST00000463781.8:c.8551G>A:p.(Val2851Ile)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- gnomAD_E_EAS: 0.0474%
- gnomAD_E_NFE: 0.0132%
- gnomAD_G_NFE: 0.0104%
- Transcripts:
- MUC4:ENST00000463781.8:c.1037C>T:p.(Pro346Leu)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- UK10K: 0.0132%
- gnomAD_E_AFR: 0.0090%
- gnomAD_E_AMR: 0.0604%
- gnomAD_E_EAS: 0.0050%
- gnomAD_E_NFE: 0.0667%
- gnomAD_E_SAS: 0.0185%
- gnomAD_G_AFR: 0.0072%
- gnomAD_G_AMR: 0.0915%
- gnomAD_G_NFE: 0.0706%
- gnomAD_G_SAS: 0.0207%
- Transcripts:
- MUC4:ENST00000463781.8:c.7741A>G:p.(Ser2581Gly)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- gnomAD_G_AFR: 0.1098%
- gnomAD_G_AMR: 0.0310%
- gnomAD_G_EAS: 0.0407%
- gnomAD_G_NFE: 0.0394%
- gnomAD_G_SAS: 0.0547%
- Transcripts:
- MUC4:ENST00000463781.8:c.12544A>G:p.(Thr4182Ala)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- gnomAD_E_AFR: 0.0135%
- gnomAD_E_AMR: 0.0499%
- gnomAD_E_EAS: 0.0321%
- gnomAD_E_NFE: 0.0254%
- gnomAD_E_SAS: 0.0116%
- gnomAD_G_AFR: 0.0310%
- gnomAD_G_AMR: 0.0323%
- gnomAD_G_NFE: 0.0763%
- gnomAD_G_SAS: 0.1272%
- Transcripts:
- MUC4:ENST00000463781.8:c.10672G>A:p.(Ala3558Thr)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- gnomAD_G_AFR: 0.2067%
- gnomAD_G_AMR: 0.0538%
- gnomAD_G_EAS: 0.0633%
- gnomAD_G_NFE: 0.0434%
- Transcripts:
- MUC4:ENST00000463781.8:c.6904G>A:p.(Ala2302Thr)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- gnomAD_G_AFR: 0.1926%
- gnomAD_G_AMR: 0.1251%
- gnomAD_G_EAS: 0.3165%
- gnomAD_G_NFE: 0.1731%
- gnomAD_G_SAS: 0.1366%
- Pathogenicity Data:
- Best Score: 0.550845
- REMM: 0.551
- Frequency Data:
- No frequency data
- Transcripts:
- MUC4:ENST00000463781.8:c.8800C>T:p.(Leu2934Phe)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- gnomAD_G_AFR: 0.5364%
- gnomAD_G_AMR: 0.0415%
- gnomAD_G_EAS: 0.1542%
- gnomAD_G_NFE: 0.1246%
- gnomAD_G_SAS: 0.0462%
- Pathogenicity Data:
- Best Score: 0.464285
- REMM: 0.464
- Frequency Data:
- No frequency data
- Transcripts:
- MUC4:ENST00000463781.8:c.83-4354C>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.433843
- REMM: 0.434
- Frequency Data:
- No frequency data
- Transcripts:
- MUC4:ENST00000463781.8:c.13925-145G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.4323
- REMM: 0.432
- Frequency Data:
- gnomAD_E_NFE: 0.0253%
- gnomAD_E_SAS: 0.0087%
- gnomAD_G_AFR: 0.0291%
- gnomAD_G_AMR: 0.0494%
- gnomAD_G_NFE: 0.1043%
- Transcripts:
- MUC4:ENST00000463781.8:c.5854C>T:p.(Pro1952Ser)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- gnomAD_E_AFR: 1.3084%
- gnomAD_E_AMR: 0.4195%
- gnomAD_E_EAS: 0.3856%
- gnomAD_E_NFE: 0.9207%
- gnomAD_E_SAS: 0.5217%
- Transcripts:
- MUC4:ENST00000463781.8:c.13530-864G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.358117
- REMM: 0.358
- Frequency Data:
- No frequency data
- Transcripts:
- MUC4:ENST00000463781.8:c.3443G>C:p.(Gly1148Ala)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- gnomAD_G_AFR: 0.0703%
- gnomAD_G_AMR: 0.2614%
- gnomAD_G_EAS: 1.3932%
- gnomAD_G_NFE: 0.7007%
- gnomAD_G_SAS: 0.1344%
- Pathogenicity Data:
- Best Score: 0.353225
- REMM: 0.353
- Frequency Data:
- No frequency data
- Transcripts:
- MUC4:ENST00000463781.8:c.13530-865G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.348935
- REMM: 0.349
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.322383
- REMM: 0.322
- Frequency Data:
- gnomAD_G_AMR: 0.2474%
- gnomAD_G_NFE: 0.0581%
- Transcripts:
- MUC4:ENST00000463781.8:c.12565G>C:p.(Asp4189His)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- gnomAD_G_AFR: 1.5224%
- gnomAD_G_AMR: 0.3788%
- gnomAD_G_NFE: 0.5908%
- gnomAD_G_SAS: 0.1698%
- Transcripts:
- MUC4:ENST00000463781.8:c.12541A>G:p.(Ser4181Gly)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- gnomAD_G_AFR: 1.5538%
- gnomAD_G_AMR: 0.5656%
- gnomAD_G_EAS: 0.4464%
- gnomAD_G_NFE: 0.4039%
- gnomAD_G_SAS: 0.4257%
- Transcripts:
- MUC4:ENST00000463781.8:c.12943+1892T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.27754
- REMM: 0.278
- Frequency Data:
- No frequency data
- Transcripts:
- MUC4:ENST00000463781.8:c.12943+1200T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.269446
- REMM: 0.269
- Frequency Data:
- No frequency data
- Transcripts:
- MUC4:ENST00000463781.8:c.12506T>C:p.(Val4169Ala)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- gnomAD_E_AFR: 0.6099%
- gnomAD_E_AMR: 0.5957%
- gnomAD_E_EAS: 1.6262%
- gnomAD_E_NFE: 0.2230%
- gnomAD_E_SAS: 0.6634%
- Transcripts:
- MUC4:ENST00000463781.8:c.12943+1514G>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.263719
- REMM: 0.264
- Frequency Data:
- No frequency data
- Transcripts:
- MUC4:ENST00000463781.8:c.12943+1513G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.263092
- REMM: 0.263
- Frequency Data:
- No frequency data
- Transcripts:
- MUC4:ENST00000463781.8:c.12943+956A>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.256174
- REMM: 0.256
- Frequency Data:
- No frequency data
- Transcripts:
- MUC4:ENST00000463781.8:c.12944-1344C>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.253406
- REMM: 0.253
- Frequency Data:
- No frequency data
- Transcripts:
- MUC4:ENST00000463781.8:c.12944-1376C>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.250802
- REMM: 0.251
- Frequency Data:
- No frequency data
- Transcripts:
- MUC4:ENST00000463781.8:c.12943+929G>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.249479
- REMM: 0.249
- Frequency Data:
- No frequency data
- Transcripts:
- MUC4:ENST00000463781.8:c.12943+960T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.247346
- REMM: 0.247
- Frequency Data:
- No frequency data
- Transcripts:
- MUC4:ENST00000463781.8:c.12943+1814A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.246723
- REMM: 0.247
- Frequency Data:
- No frequency data
- Transcripts:
- MUC4:ENST00000463781.8:c.12943+896A>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.246499
- REMM: 0.246
- Frequency Data:
- No frequency data
- Transcripts:
- MUC4:ENST00000463781.8:c.12943+928G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.245112
- REMM: 0.245
- Frequency Data:
- No frequency data
- Transcripts:
- MUC4:ENST00000463781.8:c.12943+971T>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.244652
- REMM: 0.245
- Frequency Data:
- No frequency data
- Transcripts:
- MUC4:ENST00000463781.8:c.12944-1345A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.241869
- REMM: 0.242
- Frequency Data:
- No frequency data
- Transcripts:
- MUC4:ENST00000463781.8:c.12943+824G>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.240962
- REMM: 0.241
- Frequency Data:
- No frequency data
- Transcripts:
- MUC4:ENST00000463781.8:c.12943+494G>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.238379
- REMM: 0.238
- Frequency Data:
- No frequency data
- Transcripts:
- MUC4:ENST00000463781.8:c.12944-1283T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.246375
- REMM: 0.246
- Frequency Data:
- gnomAD_G_AFR: 0.2176%
- gnomAD_G_AMR: 0.0191%
- gnomAD_G_NFE: 0.0153%
- gnomAD_G_SAS: 0.0296%
- Transcripts:
- MUC4:ENST00000463781.8:c.12943+1877T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.23888
- REMM: 0.239
- Frequency Data:
- gnomAD_G_NFE: 0.0145%
- gnomAD_G_SAS: 0.2732%
- Transcripts:
- MUC4:ENST00000463781.8:c.12943+821A>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.216927
- REMM: 0.217
- Frequency Data:
- No frequency data
- Transcripts:
- MUC4:ENST00000463781.8:c.12944-1508C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.229319
- REMM: 0.229
- Frequency Data:
- gnomAD_G_AMR: 0.1608%
- gnomAD_G_NFE: 0.0267%
- gnomAD_G_SAS: 0.4505%
- Transcripts:
- MUC4:ENST00000463781.8:c.12944-1945G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.202694
- REMM: 0.203
- Frequency Data:
- No frequency data
- Transcripts:
- MUC4:ENST00000463781.8:c.12943+1933G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.200775
- REMM: 0.201
- Frequency Data:
- No frequency data
- Transcripts:
- MUC4:ENST00000463781.8:c.12943+1994G>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.178634
- REMM: 0.179
- Frequency Data:
- No frequency data
- Transcripts:
- MUC4:ENST00000463781.8:c.12943+1993G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.177217
- REMM: 0.177
- Frequency Data:
- No frequency data
- Transcripts:
- MUC4:ENST00000463781.8:c.12943+1948G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.16181
- REMM: 0.162
- Frequency Data:
- No frequency data
- Transcripts:
- MUC4:ENST00000463781.8:c.12943+1772C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.159656
- REMM: 0.160
- Frequency Data:
- No frequency data
- Transcripts:
- MUC4:ENST00000463781.8:c.12943+524G>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.158556
- REMM: 0.159
- Frequency Data:
- gnomAD_G_AFR: 0.0150%
- gnomAD_G_NFE: 0.0114%
- Transcripts:
- MUC4:ENST00000463781.8:c.12943+1949G>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.154541
- REMM: 0.155
- Frequency Data:
- No frequency data
- Transcripts:
- MUC4:ENST00000463781.8:c.12943+1485C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.151008
- REMM: 0.151
- Frequency Data:
- No frequency data
- Transcripts:
- MUC4:ENST00000463781.8:c.12944-1733C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.14639
- REMM: 0.146
- Frequency Data:
- gnomAD_G_AMR: 0.1310%
- gnomAD_G_NFE: 0.0229%
- Transcripts:
- MUC4:ENST00000463781.8:c.12943+1004G>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.136381
- REMM: 0.136
- Frequency Data:
- No frequency data
- Transcripts:
- MUC4:ENST00000463781.8:c.12944-1944G>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.135924
- REMM: 0.136
- Frequency Data:
- No frequency data
- Transcripts:
- MUC4:ENST00000463781.8:c.12944-1482A>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.28361
- REMM: 0.284
- Frequency Data:
- gnomAD_G_AFR: 0.2160%
- gnomAD_G_AMR: 1.2539%
- gnomAD_G_NFE: 1.1125%
- gnomAD_G_SAS: 1.5789%
- Transcripts:
- MUC4:ENST00000463781.8:c.12944-1914A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.134061
- REMM: 0.134
- Frequency Data:
- No frequency data
- Transcripts:
- MUC4:ENST00000463781.8:c.12943+1153G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.13202
- REMM: 0.132
- Frequency Data:
- No frequency data
- Transcripts:
- MUC4:ENST00000463781.8:c.12943+1934C>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.127665
- REMM: 0.128
- Frequency Data:
- No frequency data
- Transcripts:
- MUC4:ENST00000463781.8:c.12943+419G>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.125955
- REMM: 0.126
- Frequency Data:
- gnomAD_G_AFR: 0.0809%
- gnomAD_G_AMR: 0.0741%
- gnomAD_G_NFE: 0.0841%
- Transcripts:
- MUC4:ENST00000463781.8:c.12944-1734C>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.124167
- REMM: 0.124
- Frequency Data:
- gnomAD_G_AFR: 0.0249%
- gnomAD_G_NFE: 0.0153%
- Transcripts:
- MUC4:ENST00000463781.8:c.12943+1304A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.11995
- REMM: 0.120
- Frequency Data:
- No frequency data
- Transcripts:
- MUC4:ENST00000463781.8:c.12943+1304A>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.11995
- REMM: 0.120
- Frequency Data:
- No frequency data
- Transcripts:
- MUC4:ENST00000463781.8:c.12943+1742C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.114971
- REMM: 0.115
- Frequency Data:
- No frequency data
- Transcripts:
- MUC4:ENST00000463781.8:c.12943+1005T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.149038
- REMM: 0.149
- Frequency Data:
- gnomAD_G_AFR: 1.0417%
- gnomAD_G_NFE: 0.9259%
- Transcripts:
- MUC4:ENST00000463781.8:c.12944-1240A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.102842
- REMM: 0.103
- Frequency Data:
- gnomAD_G_AFR: 0.1825%
- gnomAD_G_AMR: 0.0229%
- gnomAD_G_EAS: 0.0760%
- gnomAD_G_NFE: 0.0107%
- Transcripts:
- MUC4:ENST00000463781.8:c.12573C>G:p.(=)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- No frequency data
- Transcripts:
- MUC4:ENST00000463781.8:c.12555A>G:p.(=)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- No frequency data
- Transcripts:
- MUC4:ENST00000463781.8:c.3723A>T:p.(=)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- No frequency data
- Transcripts:
- MUC4:ENST00000463781.8:c.12943+1019A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0979187
- REMM: 0.098
- Frequency Data:
- No frequency data
- Transcripts:
- MUC4:ENST00000463781.8:c.12943+493G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0960623
- REMM: 0.096
- Frequency Data:
- No frequency data
- Transcripts:
- MUC4:ENST00000463781.8:c.12943+614A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.092598
- REMM: 0.093
- Frequency Data:
- No frequency data
- Transcripts:
- MUC4:ENST00000463781.8:c.13530-986G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0952405
- REMM: 0.095
- Frequency Data:
- gnomAD_G_AFR: 0.3378%
- Transcripts:
- MUC4:ENST00000463781.8:c.12944-1224G>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.0893643
- REMM: 0.089
- Frequency Data:
- gnomAD_G_NFE: 0.0113%
- Transcripts:
- MUC4:ENST00000463781.8:c.12944-1223T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.0883643
- REMM: 0.088
- Frequency Data:
- gnomAD_G_AFR: 0.0715%
- gnomAD_G_NFE: 0.0131%
- gnomAD_G_SAS: 0.0724%
- Transcripts:
- MUC4:ENST00000463781.8:c.10680G>A:p.(=)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- gnomAD_G_AFR: 0.7623%
- gnomAD_G_AMR: 0.7884%
- gnomAD_G_EAS: 0.3937%
- gnomAD_G_NFE: 0.3736%
- gnomAD_G_SAS: 0.4371%
- Transcripts:
- MUC4:ENST00000463781.8:c.12944-1239C>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0826163
- REMM: 0.083
- Frequency Data:
- gnomAD_G_AFR: 0.0719%
- gnomAD_G_AMR: 0.0188%
- gnomAD_G_EAS: 0.0909%
- gnomAD_G_NFE: 0.0096%
- Transcripts:
- MUC4:ENST00000463781.8:c.12943+1154A>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.0803881
- REMM: 0.080
- Frequency Data:
- No frequency data
- Transcripts:
- MUC4:ENST00000463781.8:c.12943+658A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0793302
- REMM: 0.079
- Frequency Data:
- No frequency data
- Transcripts:
- MUC4:ENST00000463781.8:c.12943+659C>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0775647
- REMM: 0.078
- Frequency Data:
- No frequency data
- Transcripts:
- MUC4:ENST00000463781.8:c.12943+463G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0708008
- REMM: 0.071
- Frequency Data:
- No frequency data
- Transcripts:
- MUC4:ENST00000463781.8:c.12943+1198A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0703024
- REMM: 0.070
- Frequency Data:
- No frequency data
- Transcripts:
- MUC4:ENST00000463781.8:c.5883A>G:p.(=)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- gnomAD_E_AFR: 1.1628%
- gnomAD_E_AMR: 0.1817%
- gnomAD_E_EAS: 0.2906%
- gnomAD_E_NFE: 0.1190%
- gnomAD_E_SAS: 0.3079%
- Transcripts:
- MUC4:ENST00000463781.8:c.12943+464A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0699437
- REMM: 0.070
- Frequency Data:
- No frequency data
- Transcripts:
- MUC4:ENST00000463781.8:c.12943+418G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0647214
- REMM: 0.065
- Frequency Data:
- gnomAD_G_AFR: 0.0604%
- gnomAD_G_AMR: 0.0526%
- gnomAD_G_NFE: 0.0400%
- Transcripts:
- MUC4:ENST00000463781.8:c.13530-777A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0542425
- REMM: 0.054
- Frequency Data:
- No frequency data
- Transcripts:
- MUC4:ENST00000463781.8:c.13530-779C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0572111
- REMM: 0.057
- Frequency Data:
- gnomAD_G_AFR: 0.5084%
- gnomAD_G_AMR: 0.7123%
- gnomAD_G_EAS: 1.2953%
- gnomAD_G_NFE: 0.8573%
- gnomAD_G_SAS: 0.2817%
- Transcripts:
- MUC4:ENST00000463781.8:c.13077+494G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0288421
- REMM: 0.029
- Frequency Data:
- gnomAD_G_AFR: 0.0087%
- gnomAD_G_AMR: 0.0791%
- gnomAD_G_NFE: 0.1004%
- gnomAD_G_SAS: 0.2560%
- Transcripts:
- MUC4:ENST00000463781.8:c.13530-859A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0433909
- REMM: 0.043
- Frequency Data:
- gnomAD_G_AFR: 0.6833%
- gnomAD_G_AMR: 0.7307%
- gnomAD_G_EAS: 0.9434%
- gnomAD_G_NFE: 1.3026%
- gnomAD_G_SAS: 0.6536%
- Transcripts:
- MUC4:ENST00000463781.8:c.13077+496C>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0256024
- REMM: 0.026
- Frequency Data:
- gnomAD_G_AFR: 0.0257%
- gnomAD_G_AMR: 0.0730%
- gnomAD_G_NFE: 0.1601%
- gnomAD_G_SAS: 0.3191%
- Transcripts:
- MUC4:ENST00000463781.8::
- Pathogenicity Data:
- Best Score: 0.019956
- REMM: 0.020
- Frequency Data:
- UK10K: 0.8596%
- gnomAD_G_AFR: 0.1646%
- gnomAD_G_AMR: 0.4799%
- gnomAD_G_EAS: 0.0387%
- gnomAD_G_NFE: 0.9185%
- gnomAD_G_SAS: 1.0447%
- Transcripts:
- MUC4:ENST00000463781.8:c.15871+417G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0141028
- REMM: 0.014
- Frequency Data:
- gnomAD_E_AFR: 0.1457%
- gnomAD_E_EAS: 0.0796%
- gnomAD_E_NFE: 0.0790%
- gnomAD_G_AFR: 0.1168%
- gnomAD_G_AMR: 0.0417%
- gnomAD_G_EAS: 0.0216%
- gnomAD_G_NFE: 0.0259%
- Transcripts:
- MUC4:ENST00000463781.8:c.15872-621C>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.00145952
- REMM: 0.001
- Frequency Data:
- No frequency data
- Transcripts:
- MUC4:ENST00000463781.8::
- Pathogenicity Data:
- Best Score: 0.00415238
- REMM: 0.004
- Frequency Data:
- gnomAD_E_AMR: 0.4425%
- gnomAD_E_NFE: 0.7164%
- gnomAD_E_SAS: 1.8131%
- gnomAD_G_AFR: 0.0842%
- gnomAD_G_AMR: 0.3859%
- gnomAD_G_NFE: 0.7079%
- gnomAD_G_SAS: 1.2666%
- Pathogenicity Data:
- Best Score: 0.00114286
- REMM: 0.001
- Frequency Data:
- No frequency data
- Transcripts:
- MUC4:ENST00000463781.8:c.14986+555T>C:p.(=)
- Pathogenicity Data:
- Best Score: 1.42857E-4
- REMM: 0.000
- Frequency Data:
- No frequency data
- Phenotypic similarity 0.465 to Trichorhinophalangeal syndrome type 1 associated with TRPS1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0000768, Pectus carinatum
- HP:0006625, Multifocal breast carcinoma - HP:0000768, Pectus carinatum
- Phenotypic similarity 0.380 to mouse mutant involving TRPS1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0010103, small thoracic cage
- HP:0006625, Multifocal breast carcinoma - MP:0010103, small thoracic cage
- Proximity score 0.501 in interactome to SOX9 and phenotypic similarity 0.614 to 46,XY partial gonadal dysgenesis associated with SOX9.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0000771, Gynecomastia
- HP:0006625, Multifocal breast carcinoma - HP:0000771, Gynecomastia
- Proximity score 0.501 in interactome to SOX9 and phenotypic similarity 0.353 to mouse mutant of SOX9.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0010103, small thoracic cage
- HP:0006625, Multifocal breast carcinoma - MP:0010103, small thoracic cage
- Proximity score 0.501 in interactome to SOX9 and phenotypic similarity 0.265 to fish mutant of SOX9.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - ZP:0000138, chondrocyte disorganized, abnormal
- HP:0006625, Multifocal breast carcinoma - ZP:0000138, chondrocyte disorganized, abnormal
- Known diseases:
- OMIM:190350 Trichorhinophalangeal syndrome, type I - autosomal dominant
- OMIM:190351 Trichorhinophalangeal syndrome, type III - autosomal dominant
- ORPHA:502 Trichorhinophalangeal syndrome type 2 (CNV)
- ORPHA:77258 Trichorhinophalangeal syndrome type 1 - autosomal dominant
- ORPHA:77258 Trichorhinophalangeal syndrome type 1 - autosomal dominant
AUTOSOMAL_DOMINANT
Exomiser Score: 0.710 (p=2.1E-2)
Phenotype Score: 0.501
Variant Score: 0.977
- Phenotype matches to diseases consistent with this MOI:
- Phenotypic similarity 0.465 to ORPHA:77258 Trichorhinophalangeal syndrome type 1
- Phenotypic similarity 0.453 to OMIM:190350 Trichorhinophalangeal syndrome, type I
- Transcripts:
- TRPS1:ENST00000395715.8:c.2701-64185A>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.976864
- REMM: 0.977
- Frequency Data:
- No frequency data
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.044 (p=3.4E-1)
Phenotype Score: 0.251
Variant Score: 0.827
- Transcripts:
- TRPS1:ENST00000395715.8:c.2701-64185A>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.976864
- REMM: 0.977
- Frequency Data:
- No frequency data
- Transcripts:
- TRPS1:ENST00000395715.8:c.2701-41176G>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.677898
- REMM: 0.678
- Frequency Data:
- No frequency data
- Transcripts:
- TRPS1:ENST00000395715.8:c.2700+8947A>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.652529
- REMM: 0.653
- Frequency Data:
- No frequency data
- Transcripts:
- TRPS1:ENST00000395715.8:c.-121-15212C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.585762
- REMM: 0.586
- Frequency Data:
- gnomAD_G_AFR: 0.1950%
- gnomAD_G_NFE: 0.0015%
- Transcripts:
- TRPS1:ENST00000395715.8:c.2701-57559A>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.404798
- REMM: 0.405
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.393139
- REMM: 0.393
- Frequency Data:
- gnomAD_G_AFR: 0.0321%
- gnomAD_G_AMR: 0.0136%
- gnomAD_G_EAS: 0.0397%
- gnomAD_G_NFE: 0.0508%
- Transcripts:
- TRPS1:ENST00000395715.8:c.2700+10715A>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.701848
- REMM: 0.702
- Frequency Data:
- gnomAD_G_AFR: 0.3590%
- gnomAD_G_AMR: 0.3058%
- gnomAD_G_EAS: 1.6819%
- gnomAD_G_NFE: 0.6205%
- gnomAD_G_SAS: 0.7918%
- Pathogenicity Data:
- Best Score: 0.250861
- REMM: 0.251
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.106013
- REMM: 0.106
- Frequency Data:
- No frequency data
- Transcripts:
- TRPS1:ENST00000395715.8:c.2700+53541G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0786623
- REMM: 0.079
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.0971476
- REMM: 0.097
- Frequency Data:
- gnomAD_G_AFR: 0.2349%
- gnomAD_G_AMR: 0.5694%
- gnomAD_G_EAS: 0.1061%
- gnomAD_G_NFE: 0.9579%
- gnomAD_G_SAS: 1.3207%
- Transcripts:
- TRPS1:ENST00000395715.8:c.2701-5656A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0410778
- REMM: 0.041
- Frequency Data:
- UK10K: 0.0264%
- gnomAD_G_AFR: 0.0096%
- gnomAD_G_NFE: 0.0412%
- gnomAD_G_SAS: 0.0207%
- Transcripts:
- TRPS1:ENST00000395715.8:c.2700+62681del:p.(=)
- Pathogenicity Data:
- Best Score: 0.015825
- REMM: 0.016
- Frequency Data:
- No frequency data
- Transcripts:
- TRPS1:ENST00000395715.8:c.2700+3400G>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.0108345
- REMM: 0.011
- Frequency Data:
- UK10K: 0.4628%
- gnomAD_G_AFR: 0.0818%
- gnomAD_G_AMR: 0.1831%
- gnomAD_G_EAS: 0.0386%
- gnomAD_G_NFE: 0.5138%
- gnomAD_G_SAS: 0.3526%
- Transcripts:
- TRPS1:ENST00000395715.8:c.2700+8946G>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.00553095
- REMM: 0.006
- Frequency Data:
- No frequency data
- Transcripts:
- TRPS1:ENST00000395715.8:c.2701-57555A>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- No frequency data
- Phenotypic similarity 0.998 to Breast cancer, lobular, somatic associated with CDH1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003002, Breast carcinoma
- HP:0006625, Multifocal breast carcinoma - HP:0003002, Breast carcinoma
- Phenotypic similarity 0.292 to zebrafish mutant involving CDH1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - ZP:0001556, notochord kinked, abnormal
- HP:0006625, Multifocal breast carcinoma - ZP:0001556, notochord kinked, abnormal
- Proximity score 0.525 in interactome to EPCAM and phenotypic similarity 0.998 to Lynch syndrome associated with EPCAM.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003002, Breast carcinoma
- HP:0006625, Multifocal breast carcinoma - HP:0003002, Breast carcinoma
- Known diseases:
- OMIM:114480 Breast cancer, lobular, somatic - autosomal dominant
- OMIM:119580 Blepharocheilodontic syndrome 1 - autosomal dominant
- OMIM:137215 Diffuse gastric and lobular breast cancer syndrome with or without cleft lip and/or palate - autosomal dominant
- OMIM:167000 Ovarian cancer, somatic - autosomal dominant
- OMIM:176807 Prostate cancer, susceptibility to (susceptibility)
- OMIM:608089 Endometrial carcinoma, somatic - autosomal dominant
- ORPHA:199306 Cleft lip/palate (susceptibility)
- ORPHA:1997 Blepharo-cheilo-odontic syndrome - autosomal dominant
AUTOSOMAL_DOMINANT
Exomiser Score: 0.669 (p=3.6E-2)
Phenotype Score: 0.998
Variant Score: 0.394
- Phenotype matches to diseases consistent with this MOI:
- Phenotypic similarity 0.998 to OMIM:114480 Breast cancer, lobular, somatic
- Phenotypic similarity 0.998 to OMIM:167000 Ovarian cancer, somatic
- Transcripts:
- CDH1:ENST00000261769.10:c.2439+1273del:p.(=)
- Pathogenicity Data:
- Best Score: 0.394413
- REMM: 0.394
- Frequency Data:
- No frequency data
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.009 (p=4.8E-1)
Phenotype Score: 0.263
Variant Score: 0.637
- Pathogenicity Data:
- Best Score: 0.637124
- REMM: 0.637
- Frequency Data:
- No frequency data
- Transcripts:
- CDH1:ENST00000261769.10:c.163+23960G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.9068
- REMM: 0.907
- Frequency Data:
- UK10K: 0.6876%
- gnomAD_G_AFR: 0.1275%
- gnomAD_G_AMR: 0.1504%
- gnomAD_G_NFE: 0.5204%
- Pathogenicity Data:
- Best Score: 0.603343
- REMM: 0.603
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.493445
- REMM: 0.493
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.45873
- REMM: 0.459
- Frequency Data:
- No frequency data
- Transcripts:
- CDH1:ENST00000261769.10::
- Pathogenicity Data:
- Best Score: 0.117028
- REMM: 0.117
- Frequency Data:
- No frequency data
- Transcripts:
- CDH1:ENST00000261769.10::
- Pathogenicity Data:
- Best Score: 0.116691
- REMM: 0.117
- Frequency Data:
- gnomAD_G_AFR: 1.3190%
- gnomAD_G_AMR: 0.7263%
- gnomAD_G_EAS: 0.3893%
- gnomAD_G_NFE: 1.4355%
- gnomAD_G_SAS: 0.3769%
- Transcripts:
- CDH1:ENST00000261769.10:c.164-29745G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0605111
- REMM: 0.061
- Frequency Data:
- UK10K: 0.7009%
- gnomAD_G_AFR: 0.1277%
- gnomAD_G_AMR: 0.1504%
- gnomAD_G_NFE: 0.5205%
- Transcripts:
- CDH1:ENST00000261769.10:c.1712-161G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0465798
- REMM: 0.047
- Frequency Data:
- UK10K: 0.7538%
- gnomAD_G_AFR: 0.0770%
- gnomAD_G_AMR: 0.6018%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 0.7368%
- gnomAD_G_SAS: 0.0622%
- Pathogenicity Data:
- Best Score: 0.036431
- REMM: 0.036
- Frequency Data:
- No frequency data
- Transcripts:
- CDH1:ENST00000261769.10:c.163+1198del:p.(=)
- Pathogenicity Data:
- Best Score: 0.0325687
- REMM: 0.033
- Frequency Data:
- No frequency data
- Transcripts:
- CDH1:ENST00000261769.10::
- Pathogenicity Data:
- Best Score: 0.0136262
- REMM: 0.014
- Frequency Data:
- No frequency data
- Transcripts:
- CDH1:ENST00000261769.10::
- Pathogenicity Data:
- Best Score: 0.0134512
- REMM: 0.013
- Frequency Data:
- No frequency data
- Transcripts:
- CDH1:ENST00000261769.10::
- Pathogenicity Data:
- Best Score: 0.0132083
- REMM: 0.013
- Frequency Data:
- No frequency data
- Transcripts:
- CDH1:ENST00000261769.10::
- Pathogenicity Data:
- Best Score: 0.0127012
- REMM: 0.013
- Frequency Data:
- No frequency data
- Transcripts:
- CDH1:ENST00000261769.10::
- Pathogenicity Data:
- Best Score: 0.0127012
- REMM: 0.013
- Frequency Data:
- No frequency data
- Transcripts:
- CDH1:ENST00000261769.10:c.163+19797del:p.(=)
- Pathogenicity Data:
- Best Score: 0.00288889
- REMM: 0.003
- Frequency Data:
- No frequency data
- Transcripts:
- CDH1:ENST00000261769.10:c.1566-99G>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.00244444
- REMM: 0.002
- Frequency Data:
- UK10K: 0.2909%
- gnomAD_E_AFR: 0.0313%
- gnomAD_E_AMR: 0.1450%
- gnomAD_E_EAS: 0.0052%
- gnomAD_E_NFE: 0.3116%
- gnomAD_E_SAS: 0.0112%
- gnomAD_G_AFR: 0.0361%
- gnomAD_G_AMR: 0.3206%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 0.3602%
- gnomAD_G_SAS: 0.0415%
- Transcripts:
- CDH1:ENST00000261769.10:c.164-29962C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- gnomAD_G_AFR: 0.0268%
- gnomAD_G_AMR: 0.0928%
- gnomAD_G_NFE: 0.2565%
- gnomAD_G_SAS: 0.1675%
- Proximity score 0.503 in interactome to SDHB and phenotypic similarity 0.904 to Cowden syndrome associated with SDHB.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003002, Breast carcinoma
- HP:0006625, Multifocal breast carcinoma - HP:0003002, Breast carcinoma
- Known diseases:
- OMIM:615228 ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4B, encephalopathic type (unconfirmed)
- OMIM:616045 ?Combined oxidative phosphorylation deficiency 22 (unconfirmed)
- OMIM:620358 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A - autosomal dominant
- ORPHA:254913 Isolated ATP synthase deficiency - autosomal recessive
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.659 (p=3.9E-2)
Phenotype Score: 0.503
Variant Score: 0.950
- Transcripts:
- ATP5F1A:ENST00000398752.11::
- Pathogenicity Data:
- Best Score: 0.949694
- REMM: 0.950
- Frequency Data:
- No frequency data
AUTOSOMAL_DOMINANT
Exomiser Score: 0.328 (p=1.5E-1)
Phenotype Score: 0.503
Variant Score: 0.800
- Transcripts:
- ATP5F1A:ENST00000398752.11:c.1176+5T>G:p.?
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- gnomAD_E_NFE: 0.0011%
- gnomAD_E_SAS: 0.0012%
- gnomAD_G_NFE: 0.0015%
- Pathogenicity Data:
- Best Score: 0.78861
- REMM: 0.789
- Frequency Data:
- No frequency data
- Transcripts:
- ATP5F1A:ENST00000398752.11::
- Pathogenicity Data:
- Best Score: 0.54604
- REMM: 0.546
- Frequency Data:
- No frequency data
- Transcripts:
- ATP5F1A:ENST00000398752.11::
- Pathogenicity Data:
- Best Score: 0.528214
- REMM: 0.528
- Frequency Data:
- No frequency data
- Transcripts:
- ATP5F1A:ENST00000398752.11:c.*2584_*2585del:p.(=)
- Pathogenicity Data:
- Best Score: 0.375988
- REMM: 0.376
- Frequency Data:
- No frequency data
- Transcripts:
- ATP5F1A:ENST00000398752.11:c.*2612_*2613insGTT:p.(=)
- Pathogenicity Data:
- Best Score: 0.264692
- REMM: 0.265
- Frequency Data:
- gnomAD_G_NFE: 0.0097%
- Transcripts:
- ATP5F1A:ENST00000398752.11:c.*2602T>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.194634
- REMM: 0.195
- Frequency Data:
- gnomAD_G_AFR: 0.0386%
- gnomAD_G_AMR: 0.0548%
- gnomAD_G_EAS: 0.1049%
- gnomAD_G_NFE: 0.0712%
- Proximity score 0.502 in interactome to ITGA3 and phenotypic similarity 0.603 to Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome associated with ITGA3.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0000771, Gynecomastia
- HP:0006625, Multifocal breast carcinoma - HP:0000771, Gynecomastia
- Known diseases:
- OMIM:257320 Lissencephaly 2 (Norman-Roberts type) - autosomal recessive
- OMIM:616436 Epilepsy, familial temporal lobe, 7 (susceptibility)
- ORPHA:101046 Autosomal dominant epilepsy with auditory features - autosomal dominant
- ORPHA:89844 Lissencephaly syndrome, Norman-Roberts type - autosomal recessive
AUTOSOMAL_DOMINANT
Exomiser Score: 0.634 (p=4.8E-2)
Phenotype Score: 0.502
Variant Score: 0.939
- Transcripts:
- RELN:ENST00000428762.6:c.337+41317A>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.944481
- REMM: 0.944
- Frequency Data:
- gnomAD_G_NFE: 0.0132%
- gnomAD_G_SAS: 0.0414%
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.534 (p=7.9E-2)
Phenotype Score: 0.502
Variant Score: 0.894
- Transcripts:
- RELN:ENST00000428762.6:c.337+41317A>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.944481
- REMM: 0.944
- Frequency Data:
- gnomAD_G_NFE: 0.0132%
- gnomAD_G_SAS: 0.0414%
- Transcripts:
- RELN:ENST00000428762.6:c.902+1027A>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.848768
- REMM: 0.849
- Frequency Data:
- gnomAD_G_NFE: 0.0015%
- Transcripts:
- RELN:ENST00000428762.6:c.657-2329G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.665792
- REMM: 0.666
- Frequency Data:
- gnomAD_G_AFR: 0.0048%
- gnomAD_G_AMR: 0.0066%
- gnomAD_G_NFE: 0.0132%
- gnomAD_G_SAS: 0.0623%
- Transcripts:
- RELN:ENST00000428762.6:c.7668+1064del:p.(=)
- Pathogenicity Data:
- Best Score: 0.547645
- REMM: 0.548
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.69416
- REMM: 0.694
- Frequency Data:
- gnomAD_G_AFR: 0.7588%
- gnomAD_G_AMR: 1.0611%
- gnomAD_G_EAS: 0.1180%
- gnomAD_G_NFE: 0.9141%
- gnomAD_G_SAS: 0.7306%
- Transcripts:
- RELN:ENST00000428762.6:c.902+1085T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.506583
- REMM: 0.507
- Frequency Data:
- gnomAD_G_NFE: 0.0015%
- Transcripts:
- RELN:ENST00000428762.6:c.473+17276G>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.653196
- REMM: 0.653
- Frequency Data:
- UK10K: 0.8331%
- gnomAD_G_AFR: 0.1926%
- gnomAD_G_AMR: 1.0996%
- gnomAD_G_NFE: 0.9307%
- gnomAD_G_SAS: 0.4353%
- Transcripts:
- RELN:ENST00000428762.6:c.544+3441_544+3456del:p.(=)
- Pathogenicity Data:
- Best Score: 0.353932
- REMM: 0.354
- Frequency Data:
- No frequency data
- Transcripts:
- RELN:ENST00000428762.6:c.9983+967del:p.(=)
- Pathogenicity Data:
- Best Score: 0.349819
- REMM: 0.350
- Frequency Data:
- No frequency data
- Transcripts:
- RELN:ENST00000428762.6:c.6523+890_6523+903del:p.(=)
- Pathogenicity Data:
- Best Score: 0.346577
- REMM: 0.347
- Frequency Data:
- No frequency data
- Transcripts:
- RELN:ENST00000428762.6:c.473+10755G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.317494
- REMM: 0.317
- Frequency Data:
- No frequency data
- Transcripts:
- RELN:ENST00000428762.6:c.474-23427C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.372779
- REMM: 0.373
- Frequency Data:
- gnomAD_G_AFR: 0.1276%
- gnomAD_G_AMR: 0.8244%
- gnomAD_G_NFE: 0.6909%
- gnomAD_G_SAS: 0.4353%
- Transcripts:
- RELN:ENST00000428762.6:c.338-4537del:p.(=)
- Pathogenicity Data:
- Best Score: 0.242474
- REMM: 0.242
- Frequency Data:
- No frequency data
- Transcripts:
- RELN:ENST00000428762.6:c.338-4538_338-4537del:p.(=)
- Pathogenicity Data:
- Best Score: 0.242474
- REMM: 0.242
- Frequency Data:
- No frequency data
- Transcripts:
- RELN:ENST00000428762.6:c.656+3068G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.170845
- REMM: 0.171
- Frequency Data:
- gnomAD_G_NFE: 0.0118%
- Transcripts:
- RELN:ENST00000428762.6:c.474-20268del:p.(=)
- Pathogenicity Data:
- Best Score: 0.126785
- REMM: 0.127
- Frequency Data:
- No frequency data
- Transcripts:
- RELN:ENST00000428762.6:c.805+5153C>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.125399
- REMM: 0.125
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.126074
- REMM: 0.126
- Frequency Data:
- gnomAD_E_AFR: 0.0162%
- gnomAD_E_EAS: 0.0718%
- gnomAD_E_NFE: 0.0063%
- gnomAD_E_SAS: 0.1681%
- gnomAD_G_AFR: 0.1484%
- gnomAD_G_AMR: 0.0349%
- gnomAD_G_EAS: 0.1463%
- gnomAD_G_NFE: 0.0303%
- gnomAD_G_SAS: 1.1084%
- Pathogenicity Data:
- Best Score: 0.0485984
- REMM: 0.049
- Frequency Data:
- No frequency data
- Transcripts:
- RELN:ENST00000428762.6:c.338-38875C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0420226
- REMM: 0.042
- Frequency Data:
- gnomAD_G_AFR: 0.1391%
- gnomAD_G_AMR: 0.2506%
- gnomAD_G_EAS: 0.9607%
- gnomAD_G_NFE: 0.1225%
- gnomAD_G_SAS: 0.4106%
- Transcripts:
- RELN:ENST00000428762.6:c.338-38891T>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0310528
- REMM: 0.031
- Frequency Data:
- No frequency data
- Transcripts:
- RELN:ENST00000428762.6:c.337+5200T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.0268817
- REMM: 0.027
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.0485984
- REMM: 0.049
- Frequency Data:
- gnomAD_G_AFR: 0.5219%
- gnomAD_G_AMR: 0.9148%
- gnomAD_G_NFE: 1.6961%
- gnomAD_G_SAS: 1.5152%
- Transcripts:
- RELN:ENST00000428762.6:c.473+9459C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0162151
- REMM: 0.016
- Frequency Data:
- UK10K: 0.4628%
- gnomAD_G_AFR: 0.3109%
- gnomAD_G_AMR: 0.2036%
- gnomAD_G_EAS: 0.0194%
- gnomAD_G_NFE: 0.4649%
- gnomAD_G_SAS: 0.3944%
- Transcripts:
- RELN:ENST00000428762.6:c.9194-193C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.00766905
- REMM: 0.008
- Frequency Data:
- gnomAD_G_AMR: 0.0131%
- gnomAD_G_NFE: 0.0029%
- Transcripts:
- RELN:ENST00000428762.6:c.337+6328A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.00555556
- REMM: 0.006
- Frequency Data:
- No frequency data
- Transcripts:
- RELN:ENST00000428762.6:c.337+6341G>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.00468056
- REMM: 0.005
- Frequency Data:
- No frequency data
- Transcripts:
- RELN:ENST00000428762.6:c.337+6377T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.00438056
- REMM: 0.004
- Frequency Data:
- No frequency data
- Transcripts:
- RELN:ENST00000428762.6:c.338-39867A>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.00338056
- REMM: 0.003
- Frequency Data:
- No frequency data
- Transcripts:
- RELN:ENST00000428762.6:c.5210+556G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.00304444
- REMM: 0.003
- Frequency Data:
- gnomAD_G_NFE: 0.0015%
- Transcripts:
- RELN:ENST00000428762.6:c.337+20704T>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0015
- REMM: 0.002
- Frequency Data:
- gnomAD_G_NFE: 0.0132%
- gnomAD_G_SAS: 0.0207%
- Transcripts:
- RELN:ENST00000428762.6:c.473+25121C>A:p.(=)
- Pathogenicity Data:
- Best Score: 6.66667E-4
- REMM: 0.001
- Frequency Data:
- No frequency data
- Transcripts:
- RELN:ENST00000428762.6:c.338-3788G>C:p.(=)
- Pathogenicity Data:
- Best Score: 1.42857E-4
- REMM: 0.000
- Frequency Data:
- gnomAD_G_AMR: 0.1504%
- gnomAD_G_NFE: 0.0088%
- Transcripts:
- RELN:ENST00000428762.6:c.5798-739del:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- gnomAD_G_AFR: 0.1542%
- gnomAD_G_AMR: 0.0782%
- gnomAD_G_EAS: 0.0277%
- gnomAD_G_NFE: 0.0777%
- Transcripts:
- RELN:ENST00000428762.6:c.4146-3895del:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- No frequency data
- Transcripts:
- RELN:ENST00000428762.6:c.474-7354G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- UK10K: 0.4496%
- gnomAD_G_AFR: 0.0659%
- gnomAD_G_AMR: 0.2013%
- gnomAD_G_NFE: 0.4612%
- gnomAD_G_SAS: 0.4111%
- Transcripts:
- RELN:ENST00000428762.6:c.338-35073G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- UK10K: 0.0793%
- gnomAD_G_AFR: 0.0144%
- gnomAD_G_AMR: 0.2754%
- gnomAD_G_NFE: 0.1074%
- gnomAD_G_SAS: 0.4141%
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- No frequency data
- Transcripts:
- RELN:ENST00000428762.6:c.337+12099del:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- No frequency data
- Phenotypic similarity 0.614 to 46,XY partial gonadal dysgenesis associated with WT1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0000771, Gynecomastia
- HP:0006625, Multifocal breast carcinoma - HP:0000771, Gynecomastia
- Proximity score 0.506 in interactome to SRY and phenotypic similarity 0.614 to 46XX sex reversal 1 associated with SRY.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0000771, Gynecomastia
- HP:0006625, Multifocal breast carcinoma - HP:0000771, Gynecomastia
- Known diseases:
- OMIM:136680 Frasier syndrome - autosomal dominant
- OMIM:156240 Mesothelioma, somatic - somatic
- OMIM:194070 Wilms tumor, type 1 - autosomal dominant
- OMIM:194080 Denys-Drash syndrome - autosomal dominant
- OMIM:256370 Nephrotic syndrome, type 4 - autosomal dominant
- OMIM:608978 Meacham syndrome - autosomal dominant
- ORPHA:220 Denys-Drash syndrome - autosomal dominant
- ORPHA:242 46,XY complete gonadal dysgenesis - autosomal dominant/recessive
- ORPHA:251510 46,XY partial gonadal dysgenesis - autosomal dominant/recessive
- ORPHA:3097 Meacham syndrome - autosomal dominant
- ORPHA:347 Frasier syndrome - autosomal dominant
- ORPHA:654 Nephroblastoma (unconfirmed)
- ORPHA:654 Nephroblastoma (susceptibility)
- ORPHA:656 Genetic steroid-resistant nephrotic syndrome - autosomal dominant
- ORPHA:893 WAGR syndrome (CNV)
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.634 (p=4.8E-2)
Phenotype Score: 0.614
Variant Score: 0.812
- Phenotype matches to diseases consistent with this MOI:
- Phenotypic similarity 0.614 to ORPHA:251510 46,XY partial gonadal dysgenesis
- Transcripts:
- WT1:ENST00000452863.10:c.887+4369A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.901629
- REMM: 0.902
- Frequency Data:
- UK10K: 0.0132%
- gnomAD_G_AFR: 0.0192%
- gnomAD_G_NFE: 0.1088%
- gnomAD_G_SAS: 0.1036%
- Pathogenicity Data:
- Best Score: 0.736756
- REMM: 0.737
- Frequency Data:
- No frequency data
AUTOSOMAL_DOMINANT
Exomiser Score: 0.464 (p=1.0E-1)
Phenotype Score: 0.614
Variant Score: 0.737
- Phenotype matches to diseases consistent with this MOI:
- Phenotypic similarity 0.614 to ORPHA:251510 46,XY partial gonadal dysgenesis
- Pathogenicity Data:
- Best Score: 0.736756
- REMM: 0.737
- Frequency Data:
- No frequency data
- Transcripts:
- WT1:ENST00000452863.10:c.1017-2710G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.392435
- REMM: 0.392
- Frequency Data:
- No frequency data
- Phenotypic similarity 0.620 to Leprechaunism associated with INSR.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0004405, Prominent nipples
- HP:0006625, Multifocal breast carcinoma - HP:0004405, Prominent nipples
- Phenotypic similarity 0.273 to zebrafish mutant involving INSR.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - ZP:0103759, scale fin decreased size, abnormal
- HP:0006625, Multifocal breast carcinoma - ZP:0103759, scale fin decreased size, abnormal
- Proximity score 0.503 in interactome to FGF17 and phenotypic similarity 0.620 to Kallmann syndrome associated with FGF17.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003187, Breast hypoplasia
- HP:0006625, Multifocal breast carcinoma - HP:0003187, Breast hypoplasia
- Known diseases:
- OMIM:246200 Donohue syndrome - autosomal recessive
- OMIM:262190 Rabson-Mendenhall syndrome - autosomal recessive
- OMIM:609968 Hyperinsulinemic hypoglycemia, familial, 5 - autosomal dominant
- ORPHA:2297 Insulin-resistance syndrome type A - autosomal dominant/recessive
- ORPHA:263458 Hyperinsulinism due to INSR deficiency - autosomal dominant
- ORPHA:508 Leprechaunism - autosomal recessive
- ORPHA:769 Rabson-Mendenhall syndrome - autosomal recessive
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.630 (p=4.9E-2)
Phenotype Score: 0.620
Variant Score: 0.803
- Phenotype matches to diseases consistent with this MOI:
- Phenotypic similarity 0.620 to ORPHA:508 Leprechaunism
- Phenotypic similarity 0.620 to OMIM:246200 Donohue syndrome
- Transcripts:
- INSR:ENST00000302850.10:c.653-22314C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.90557
- REMM: 0.906
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.699517
- REMM: 0.700
- Frequency Data:
- No frequency data
AUTOSOMAL_DOMINANT
Exomiser Score: 0.565 (p=7.0E-2)
Phenotype Score: 0.503
Variant Score: 0.906
- Transcripts:
- INSR:ENST00000302850.10:c.653-22314C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.90557
- REMM: 0.906
- Frequency Data:
- No frequency data
- Transcripts:
- INSR:ENST00000302850.10:c.653-40804C>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.674651
- REMM: 0.675
- Frequency Data:
- UK10K: 0.0397%
- gnomAD_G_AFR: 0.0100%
- gnomAD_G_AMR: 0.0274%
- gnomAD_G_NFE: 0.0530%
- gnomAD_G_SAS: 0.0483%
- Transcripts:
- Pathogenicity Data:
- Best Score: 0.658115
- REMM: 0.658
- Frequency Data:
- No frequency data
- Transcripts:
- INSR:ENST00000302850.10:c.653-4234del:p.(=)
- Pathogenicity Data:
- Best Score: 0.62866
- REMM: 0.629
- Frequency Data:
- No frequency data
- Transcripts:
- INSR:ENST00000302850.10:c.974+3134C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.593127
- REMM: 0.593
- Frequency Data:
- gnomAD_G_AFR: 0.0072%
- gnomAD_G_AMR: 0.0261%
- gnomAD_G_NFE: 0.0412%
- gnomAD_G_SAS: 0.0207%
- Transcripts:
- INSR:ENST00000302850.10:c.653-7640_653-7625del:p.(=)
- Pathogenicity Data:
- Best Score: 0.574192
- REMM: 0.574
- Frequency Data:
- No frequency data
- Transcripts:
- INSR:ENST00000302850.10:c.653-7620del:p.(=)
- Pathogenicity Data:
- Best Score: 0.520137
- REMM: 0.520
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.61876
- REMM: 0.619
- Frequency Data:
- gnomAD_G_AFR: 0.8826%
- gnomAD_G_AMR: 0.4120%
- gnomAD_G_EAS: 0.1182%
- gnomAD_G_NFE: 0.3734%
- gnomAD_G_SAS: 0.7331%
- Pathogenicity Data:
- Best Score: 0.455689
- REMM: 0.456
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.431873
- REMM: 0.432
- Frequency Data:
- No frequency data
- Transcripts:
- INSR:ENST00000302850.10:c.652+37584del:p.(=)
- Pathogenicity Data:
- Best Score: 0.403928
- REMM: 0.404
- Frequency Data:
- No frequency data
- Transcripts:
- INSR:ENST00000302850.10:c.652+24110del:p.(=)
- Pathogenicity Data:
- Best Score: 0.384757
- REMM: 0.385
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.347206
- REMM: 0.347
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.328858
- REMM: 0.329
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.447916
- REMM: 0.448
- Frequency Data:
- gnomAD_G_AFR: 0.4569%
- gnomAD_G_AMR: 1.2320%
- gnomAD_G_EAS: 0.1988%
- gnomAD_G_NFE: 0.9542%
- gnomAD_G_SAS: 0.7781%
- Pathogenicity Data:
- Best Score: 0.291638
- REMM: 0.292
- Frequency Data:
- No frequency data
- Transcripts:
- INSR:ENST00000302850.10:c.2542+426del:p.(=)
- Pathogenicity Data:
- Best Score: 0.246877
- REMM: 0.247
- Frequency Data:
- No frequency data
- Transcripts:
- INSR:ENST00000302850.10:c.653-9872del:p.(=)
- Pathogenicity Data:
- Best Score: 0.214255
- REMM: 0.214
- Frequency Data:
- No frequency data
- Transcripts:
- INSR:ENST00000302850.10:c.2030-3856del:p.(=)
- Pathogenicity Data:
- Best Score: 0.185744
- REMM: 0.186
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.463199
- REMM: 0.463
- Frequency Data:
- gnomAD_G_AFR: 0.1405%
- gnomAD_G_AMR: 0.4663%
- gnomAD_G_EAS: 1.6400%
- gnomAD_G_NFE: 0.5404%
- gnomAD_G_SAS: 1.8526%
- Transcripts:
- INSR:ENST00000302850.10:c.3794+533_3794+534del:p.(=)
- Pathogenicity Data:
- Best Score: 0.0524571
- REMM: 0.052
- Frequency Data:
- No frequency data
- Transcripts:
- INSR:ENST00000302850.10:c.3794+534del:p.(=)
- Pathogenicity Data:
- Best Score: 0.00486111
- REMM: 0.005
- Frequency Data:
- No frequency data
- Transcripts:
- INSR:ENST00000302850.10:c.652+10413del:p.(=)
- Pathogenicity Data:
- Best Score: 0.00240833
- REMM: 0.002
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.001625
- REMM: 0.002
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.00125
- REMM: 0.001
- Frequency Data:
- No frequency data
- Transcripts:
- INSR:ENST00000302850.10:c.653-34850T>C:p.(=)
- Pathogenicity Data:
- Best Score: 3.88889E-4
- REMM: 0.000
- Frequency Data:
- No frequency data
- Transcripts:
- INSR:ENST00000302850.10:c.652+33676del:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- No frequency data
- Phenotypic similarity 0.414 to ?Otofaciocervical syndrome associated with EYA1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0200021, Down-sloping shoulders
- HP:0006625, Multifocal breast carcinoma - HP:0200021, Down-sloping shoulders
- Phenotypic similarity 0.342 to mouse mutant involving EYA1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0000154, rib fusion
- HP:0006625, Multifocal breast carcinoma - MP:0000154, rib fusion
- Phenotypic similarity 0.256 to zebrafish mutant involving EYA1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - ZP:0001052, mandibular arch skeleton morphology, abnormal
- HP:0006625, Multifocal breast carcinoma - ZP:0001052, mandibular arch skeleton morphology, abnormal
- Proximity score 0.501 in interactome to ERBB2 and phenotypic similarity 0.998 to Ovarian cancer, somatic associated with ERBB2.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003002, Breast carcinoma
- HP:0006625, Multifocal breast carcinoma - HP:0003002, Breast carcinoma
- Known diseases:
- OMIM:113650 Branchiootorenal syndrome 1, with or without cataracts - autosomal dominant
- OMIM:166780 ?Otofaciocervical syndrome (unconfirmed)
- OMIM:602588 Branchiootic syndrome 1 - autosomal dominant
- ORPHA:107 BOR syndrome - autosomal dominant
- ORPHA:2792 Otofaciocervical syndrome - autosomal dominant
- ORPHA:52429 Branchiootic syndrome - autosomal dominant
AUTOSOMAL_DOMINANT
Exomiser Score: 0.616 (p=5.4E-2)
Phenotype Score: 0.501
Variant Score: 0.931
- Phenotype matches to diseases consistent with this MOI:
- Phenotypic similarity 0.414 to OMIM:166780 ?Otofaciocervical syndrome
- Phenotypic similarity 0.411 to ORPHA:2792 Otofaciocervical syndrome
- Transcripts:
- EYA1:ENST00000340726.8:c.*1284C>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.934732
- REMM: 0.935
- Frequency Data:
- gnomAD_G_AMR: 0.0262%
- gnomAD_G_NFE: 0.0162%
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.025 (p=3.8E-1)
Phenotype Score: 0.251
Variant Score: 0.762
- Transcripts:
- EYA1:ENST00000340726.8:c.*1284C>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.934732
- REMM: 0.935
- Frequency Data:
- gnomAD_G_AMR: 0.0262%
- gnomAD_G_NFE: 0.0162%
- Transcripts:
- EYA1:ENST00000340726.8:c.826+12249del:p.(=)
- Pathogenicity Data:
- Best Score: 0.593446
- REMM: 0.593
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.593446
- REMM: 0.593
- Frequency Data:
- No frequency data
- Transcripts:
- EYA1:ENST00000340726.8:c.827-5224_827-5219del:p.(=)
- Pathogenicity Data:
- Best Score: 0.505493
- REMM: 0.505
- Frequency Data:
- No frequency data
- Transcripts:
- EYA1:ENST00000340726.8:c.827-5219del:p.(=)
- Pathogenicity Data:
- Best Score: 0.238122
- REMM: 0.238
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.367178
- REMM: 0.367
- Frequency Data:
- gnomAD_G_AFR: 0.3395%
- gnomAD_G_AMR: 0.9940%
- gnomAD_G_EAS: 0.4741%
- gnomAD_G_NFE: 0.7595%
- gnomAD_G_SAS: 1.3427%
- Transcripts:
- EYA1:ENST00000340726.8:c.1051-461G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.226455
- REMM: 0.226
- Frequency Data:
- UK10K: 1.9836%
- gnomAD_G_AFR: 0.3248%
- gnomAD_G_AMR: 1.2418%
- gnomAD_G_EAS: 0.1160%
- gnomAD_G_NFE: 1.8672%
- gnomAD_G_SAS: 0.1449%
- Proximity score 0.504 in interactome to RASGRP1 and phenotypic similarity 0.876 to Autoimmune lymphoproliferative syndrome associated with RASGRP1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0010619, Fibroadenoma of the breast
- HP:0006625, Multifocal breast carcinoma - HP:0010619, Fibroadenoma of the breast
- Proximity score 0.504 in interactome to RASGRP1 and phenotypic similarity 0.207 to mouse mutant of RASGRP1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0002145, abnormal T cell differentiation
- HP:0006625, Multifocal breast carcinoma - MP:0002145, abnormal T cell differentiation
- Known diseases:
- OMIM:117360 Spinocerebellar ataxia 29, congenital nonprogressive - autosomal dominant
- OMIM:206700 Gillespie syndrome - autosomal dominant/recessive
- OMIM:606658 Spinocerebellar ataxia 15 - autosomal dominant
- ORPHA:1065 Aniridia-cerebellar ataxia-intellectual disability syndrome - autosomal dominant/recessive
- ORPHA:208513 Spinocerebellar ataxia type 29 - autosomal dominant
- ORPHA:98769 Spinocerebellar ataxia type 15/16 - autosomal dominant
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.611 (p=5.5E-2)
Phenotype Score: 0.504
Variant Score: 0.926
- Transcripts:
- ITPR1:ENST00000649015.2:c.*1183_*1184dup:p.(=)
- Pathogenicity Data:
- Best Score: 0.925518
- REMM: 0.926
- Frequency Data:
- No frequency data
AUTOSOMAL_DOMINANT
Exomiser Score: 0.192 (p=2.0E-1)
Phenotype Score: 0.504
Variant Score: 0.720
- Transcripts:
- ITPR1:ENST00000649015.2:c.4992-546_4992-542del:p.(=)
- Pathogenicity Data:
- Best Score: 0.722664
- REMM: 0.723
- Frequency Data:
- gnomAD_G_AFR: 0.0276%
- gnomAD_G_NFE: 0.0177%
- Transcripts:
- ITPR1:ENST00000649015.2:c.7272+844_7272+880del:p.(=)
- Pathogenicity Data:
- Best Score: 0.808235
- REMM: 0.808
- Frequency Data:
- No frequency data
- Transcripts:
- ITPR1:ENST00000649015.2:c.5980-1528A>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.853785
- REMM: 0.854
- Frequency Data:
- UK10K: 0.9654%
- gnomAD_G_AFR: 0.2117%
- gnomAD_G_AMR: 0.3268%
- gnomAD_G_NFE: 1.0380%
- gnomAD_G_SAS: 0.2280%
- Pathogenicity Data:
- Best Score: 0.641311
- REMM: 0.641
- Frequency Data:
- No frequency data
- Transcripts:
- ITPR1:ENST00000649015.2:c.163+13934G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.858267
- REMM: 0.858
- Frequency Data:
- UK10K: 0.6083%
- gnomAD_G_AFR: 0.1617%
- gnomAD_G_AMR: 1.0684%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 0.7758%
- gnomAD_G_SAS: 0.6434%
- Transcripts:
- ITPR1:ENST00000649015.2:c.163+2311A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.563462
- REMM: 0.563
- Frequency Data:
- No frequency data
- Transcripts:
- ITPR1:ENST00000649015.2:c.7107+1035G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.526976
- REMM: 0.527
- Frequency Data:
- No frequency data
- Transcripts:
- ITPR1:ENST00000649015.2:c.-17+5490C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.665906
- REMM: 0.666
- Frequency Data:
- UK10K: 0.8199%
- gnomAD_G_AFR: 0.1974%
- gnomAD_G_AMR: 0.9678%
- gnomAD_G_NFE: 0.9100%
- gnomAD_G_SAS: 0.1451%
- Pathogenicity Data:
- Best Score: 0.499607
- REMM: 0.500
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.499607
- REMM: 0.500
- Frequency Data:
- No frequency data
- Transcripts:
- ITPR1:ENST00000649015.2:c.163+36260G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.63965
- REMM: 0.640
- Frequency Data:
- UK10K: 0.7802%
- gnomAD_G_AFR: 0.1781%
- gnomAD_G_AMR: 1.0064%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 0.9177%
- gnomAD_G_SAS: 0.1246%
- Transcripts:
- ITPR1:ENST00000649015.2::
- Pathogenicity Data:
- Best Score: 0.458368
- REMM: 0.458
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.728404
- REMM: 0.728
- Frequency Data:
- UK10K: 1.5075%
- gnomAD_G_AFR: 0.2357%
- gnomAD_G_AMR: 0.7518%
- gnomAD_G_NFE: 1.4345%
- gnomAD_G_SAS: 1.3900%
- Transcripts:
- ITPR1:ENST00000649015.2:c.7108-2173G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.295799
- REMM: 0.296
- Frequency Data:
- UK10K: 0.8728%
- gnomAD_G_AFR: 0.2021%
- gnomAD_G_AMR: 0.3855%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 0.9221%
- gnomAD_G_SAS: 0.2281%
- Transcripts:
- ITPR1:ENST00000649015.2:c.6616-609del:p.(=)
- Pathogenicity Data:
- Best Score: 0.219624
- REMM: 0.220
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.207997
- REMM: 0.208
- Frequency Data:
- gnomAD_G_AFR: 0.0113%
- gnomAD_G_AMR: 0.0824%
- gnomAD_G_NFE: 0.0760%
- Transcripts:
- ITPR1:ENST00000649015.2::
- Pathogenicity Data:
- Best Score: 0.152346
- REMM: 0.152
- Frequency Data:
- gnomAD_G_NFE: 0.0088%
- Transcripts:
- ITPR1:ENST00000649015.2::
- Pathogenicity Data:
- Best Score: 0.136542
- REMM: 0.137
- Frequency Data:
- No frequency data
- Transcripts:
- ITPR1:ENST00000649015.2:c.164-38124T>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.536178
- REMM: 0.536
- Frequency Data:
- UK10K: 0.8728%
- gnomAD_G_AFR: 0.1302%
- gnomAD_G_AMR: 0.6887%
- gnomAD_G_NFE: 0.9769%
- gnomAD_G_SAS: 1.8966%
- Transcripts:
- ITPR1:ENST00000649015.2:c.8028+6372G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.00470357
- REMM: 0.005
- Frequency Data:
- gnomAD_G_AFR: 0.0217%
- gnomAD_G_AMR: 0.0065%
- gnomAD_G_NFE: 0.0015%
- Transcripts:
- ITPR1:ENST00000649015.2:c.164-27813T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.00282222
- REMM: 0.003
- Frequency Data:
- gnomAD_G_NFE: 0.0015%
- Transcripts:
- ITPR1:ENST00000649015.2:c.164-44576C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.00287222
- REMM: 0.003
- Frequency Data:
- UK10K: 0.3174%
- gnomAD_G_AFR: 0.0530%
- gnomAD_G_AMR: 0.1570%
- gnomAD_G_NFE: 0.2985%
- gnomAD_G_SAS: 0.7258%
- Transcripts:
- ITPR1:ENST00000649015.2:c.164-4788C>T:p.(=)
- Pathogenicity Data:
- Best Score: 8.38095E-4
- REMM: 0.001
- Frequency Data:
- UK10K: 1.1769%
- gnomAD_G_AFR: 0.2381%
- gnomAD_G_AMR: 1.0003%
- gnomAD_G_NFE: 1.2199%
- gnomAD_G_SAS: 0.7667%
- Transcripts:
- ITPR1:ENST00000649015.2:c.996+1968G>A:p.(=)
- Pathogenicity Data:
- Best Score: 9.16667E-4
- REMM: 0.001
- Frequency Data:
- UK10K: 0.0264%
- gnomAD_G_AFR: 1.3816%
- gnomAD_G_AMR: 0.1765%
- gnomAD_G_NFE: 0.0970%
- gnomAD_G_SAS: 0.1867%
- Transcripts:
- ITPR1:ENST00000649015.2::
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- No frequency data
- Transcripts:
- ITPR1:ENST00000649015.2:c.163+35944C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- gnomAD_G_AFR: 0.0048%
- gnomAD_G_AMR: 0.0131%
- gnomAD_G_NFE: 0.0191%
- Transcripts:
- ITPR1:ENST00000649015.2:c.163+36186A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- UK10K: 0.7934%
- gnomAD_G_AFR: 0.1804%
- gnomAD_G_AMR: 1.0463%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 0.9306%
- gnomAD_G_SAS: 0.7054%
- Transcripts:
- ITPR1:ENST00000649015.2:c.164-47500G>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- gnomAD_G_NFE: 0.0103%
- Transcripts:
- ITPR1:ENST00000649015.2:c.164-22130C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- UK10K: 0.0397%
- gnomAD_G_AFR: 0.0024%
- gnomAD_G_NFE: 0.0294%
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- No frequency data
- Phenotypic similarity 0.577 to Mowat-Wilson syndrome associated with ZEB2.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0002558, Supernumerary nipple
- HP:0006625, Multifocal breast carcinoma - HP:0002558, Supernumerary nipple
- Phenotypic similarity 0.242 to zebrafish mutant involving ZEB2.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - ZP:0000235, mandibular arch skeleton hypoplastic, abnormal
- HP:0006625, Multifocal breast carcinoma - ZP:0000235, mandibular arch skeleton hypoplastic, abnormal
- Proximity score 0.504 in interactome to TWIST1 and phenotypic similarity 0.998 to Saethre-Chotzen syndrome with or without eyelid anomalies associated with TWIST1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003002, Breast carcinoma
- HP:0006625, Multifocal breast carcinoma - HP:0003002, Breast carcinoma
- Proximity score 0.504 in interactome to TWIST1 and phenotypic similarity 0.356 to mouse mutant of TWIST1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0000137, abnormal vertebrae morphology
- HP:0006625, Multifocal breast carcinoma - MP:0000137, abnormal vertebrae morphology
- Proximity score 0.504 in interactome to TWIST1 and phenotypic similarity 0.257 to fish mutant of TWIST1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - ZP:0007632, notochord absent, abnormal
- HP:0006625, Multifocal breast carcinoma - ZP:0007632, notochord absent, abnormal
- Known diseases:
- OMIM:235730 Mowat-Wilson syndrome - autosomal dominant
- ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 (CNV)
- ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation - autosomal dominant
AUTOSOMAL_DOMINANT
Exomiser Score: 0.610 (p=5.6E-2)
Phenotype Score: 0.577
Variant Score: 0.843
- Phenotype matches to diseases consistent with this MOI:
- Phenotypic similarity 0.577 to OMIM:235730 Mowat-Wilson syndrome
- Phenotypic similarity 0.463 to ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22
- Phenotypic similarity 0.463 to ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation
- Transcripts:
- ZEB2:ENST00000627532.3:c.404-9236_404-9234del:p.(=)
- Pathogenicity Data:
- Best Score: 0.842781
- REMM: 0.843
- Frequency Data:
- gnomAD_G_NFE: 0.0015%
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.042 (p=3.4E-1)
Phenotype Score: 0.252
Variant Score: 0.820
- Transcripts:
- ZEB2:ENST00000627532.3:c.404-9236_404-9234del:p.(=)
- Pathogenicity Data:
- Best Score: 0.842781
- REMM: 0.843
- Frequency Data:
- gnomAD_G_NFE: 0.0015%
- Transcripts:
- ZEB2:ENST00000627532.3:c.74-20900G>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.815095
- REMM: 0.815
- Frequency Data:
- gnomAD_G_AMR: 0.0719%
- gnomAD_G_NFE: 0.0441%
- gnomAD_G_SAS: 0.1450%
- Transcripts:
- ZEB2:ENST00000627532.3::
- Pathogenicity Data:
- Best Score: 0.745971
- REMM: 0.746
- Frequency Data:
- No frequency data
- Transcripts:
- ZEB2:ENST00000627532.3:c.331+686G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.725536
- REMM: 0.726
- Frequency Data:
- UK10K: 0.0132%
- gnomAD_G_AFR: 0.0048%
- gnomAD_G_AMR: 0.0654%
- gnomAD_G_NFE: 0.0103%
- Transcripts:
- ZEB2:ENST00000627532.3:c.74-30943T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.977721
- REMM: 0.978
- Frequency Data:
- UK10K: 0.8463%
- gnomAD_G_AFR: 0.1587%
- gnomAD_G_AMR: 0.4777%
- gnomAD_G_NFE: 1.1542%
- gnomAD_G_SAS: 0.6829%
- Transcripts:
- ZEB2:ENST00000627532.3::
- Pathogenicity Data:
- Best Score: 0.672731
- REMM: 0.673
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.00960556
- REMM: 0.010
- Frequency Data:
- No frequency data
- Transcripts:
- ZEB2:ENST00000627532.3::
- Pathogenicity Data:
- Best Score: 0.00955079
- REMM: 0.010
- Frequency Data:
- gnomAD_G_AFR: 0.9689%
- gnomAD_G_AMR: 0.6405%
- gnomAD_G_EAS: 0.0194%
- gnomAD_G_NFE: 1.2279%
- gnomAD_G_SAS: 1.6534%
- Transcripts:
- ZEB2:ENST00000627532.3:c.73+19396_73+19445del:p.(=)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- No frequency data
- Phenotypic similarity 0.643 to Congenital hypotonia, epilepsy, developmental delay, and digital anomalies associated with ATN1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003186, Inverted nipples
- HP:0006625, Multifocal breast carcinoma - HP:0003186, Inverted nipples
- Proximity score 0.502 in interactome to RERE and phenotypic similarity 0.643 to Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart associated with RERE.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003186, Inverted nipples
- HP:0006625, Multifocal breast carcinoma - HP:0003186, Inverted nipples
- Proximity score 0.502 in interactome to RERE and phenotypic similarity 0.260 to fish mutant of RERE.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - ZP:0001988, neurocranium decreased size, abnormal
- HP:0006625, Multifocal breast carcinoma - ZP:0001988, neurocranium decreased size, abnormal
- Known diseases:
- OMIM:125370 Dentatorubral-pallidoluysian atrophy - autosomal dominant
- OMIM:618494 Congenital hypotonia, epilepsy, developmental delay, and digital anomalies - autosomal dominant
- ORPHA:101 Dentatorubral pallidoluysian atrophy - autosomal dominant
AUTOSOMAL_DOMINANT
Exomiser Score: 0.524 (p=8.3E-2)
Phenotype Score: 0.643
Variant Score: 0.730
- Phenotype matches to diseases consistent with this MOI:
- Phenotypic similarity 0.643 to OMIM:618494 Congenital hypotonia, epilepsy, developmental delay, and digital anomalies
- Pathogenicity Data:
- Best Score: 0.729988
- REMM: 0.730
- Frequency Data:
- No frequency data
- Proximity score 0.514 in interactome to NTHL1 and phenotypic similarity 0.998 to Familial adenomatous polyposis 3 associated with NTHL1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003002, Breast carcinoma
- HP:0006625, Multifocal breast carcinoma - HP:0003002, Breast carcinoma
- Known diseases:
- OMIM:618086 Spermatogenic failure 28 - autosomal recessive
- OMIM:618096 ?Premature ovarian failure 15 (unconfirmed)
- ORPHA:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation - autosomal recessive
- ORPHA:84 Fanconi anemia - autosomal recessive
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.507 (p=8.8E-2)
Phenotype Score: 0.514
Variant Score: 0.868
- Transcripts:
- FANCM:ENST00000267430.10:c.3921T>A:p.(Tyr1307*)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.736866
- REMM: 0.737
- Frequency Data:
- No frequency data
AUTOSOMAL_DOMINANT
Exomiser Score: 0.192 (p=2.0E-1)
Phenotype Score: 0.257
Variant Score: 1.000
- Transcripts:
- FANCM:ENST00000267430.10:c.3921T>A:p.(Tyr1307*)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- No frequency data
- Transcripts:
- FANCM:ENST00000267430.10:c.760-2004del:p.(=)
- Pathogenicity Data:
- Best Score: 0.160904
- REMM: 0.161
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.223978
- REMM: 0.224
- Frequency Data:
- gnomAD_G_AFR: 0.0859%
- gnomAD_G_AMR: 0.6191%
- gnomAD_G_EAS: 0.2466%
- gnomAD_G_NFE: 0.4159%
- gnomAD_G_SAS: 1.2195%
- Transcripts:
- FANCM:ENST00000267430.10:c.1581+926G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- gnomAD_G_AMR: 0.0132%
- gnomAD_G_NFE: 0.0133%
- gnomAD_G_SAS: 0.1043%
- Proximity score 0.502 in interactome to ITGA3 and phenotypic similarity 0.603 to Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome associated with ITGA3.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0000771, Gynecomastia
- HP:0006625, Multifocal breast carcinoma - HP:0000771, Gynecomastia
- Known diseases:
- OMIM:193400 von Willebrand disease, type 1 - autosomal dominant
- OMIM:277480 von Willebrand disease, type 3 - autosomal recessive
- OMIM:613554 von Willebrand disease, types 2A, 2B, 2M, and 2N - autosomal dominant/recessive
AUTOSOMAL_DOMINANT
Exomiser Score: 0.498 (p=9.1E-2)
Phenotype Score: 0.502
Variant Score: 0.878
- Pathogenicity Data:
- Best Score: 0.878489
- REMM: 0.878
- Frequency Data:
- No frequency data
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.451 (p=1.0E-1)
Phenotype Score: 0.502
Variant Score: 0.858
- Pathogenicity Data:
- Best Score: 0.878489
- REMM: 0.878
- Frequency Data:
- No frequency data
- Transcripts:
- VWF:ENST00000261405.10:c.1534-487T>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.837626
- REMM: 0.838
- Frequency Data:
- No frequency data
- Transcripts:
- VWF:ENST00000261405.10:c.3675-36C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.685096
- REMM: 0.685
- Frequency Data:
- gnomAD_E_AFR: 0.0121%
- gnomAD_E_NFE: 0.0079%
- gnomAD_E_SAS: 0.0919%
- gnomAD_G_AFR: 0.0289%
- gnomAD_G_AMR: 0.0065%
- gnomAD_G_NFE: 0.0103%
- gnomAD_G_SAS: 0.0830%
- Transcripts:
- VWF:ENST00000261405.10:c.220+2797del:p.(=)
- Pathogenicity Data:
- Best Score: 0.646091
- REMM: 0.646
- Frequency Data:
- No frequency data
- Transcripts:
- VWF:ENST00000261405.10:c.1945+1011G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.609662
- REMM: 0.610
- Frequency Data:
- UK10K: 0.0529%
- gnomAD_G_AFR: 0.0073%
- gnomAD_G_AMR: 0.0597%
- gnomAD_G_EAS: 0.0195%
- gnomAD_G_NFE: 0.0457%
- gnomAD_G_SAS: 0.0629%
- Pathogenicity Data:
- Best Score: 0.522107
- REMM: 0.522
- Frequency Data:
- gnomAD_G_AFR: 0.0092%
- Transcripts:
- VWF:ENST00000261405.10:c.3675-280A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.693225
- REMM: 0.693
- Frequency Data:
- UK10K: 0.4893%
- gnomAD_G_AFR: 0.1154%
- gnomAD_G_AMR: 0.8365%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 0.6968%
- gnomAD_G_SAS: 1.0969%
- Transcripts:
- VWF:ENST00000261405.10:c.3692A>C:p.(Asn1231Thr)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- gnomAD_E_AFR: 1.0578%
- gnomAD_E_AMR: 0.0764%
- gnomAD_E_EAS: 0.0655%
- gnomAD_E_NFE: 0.1337%
- gnomAD_E_SAS: 0.6072%
- gnomAD_G_AFR: 1.3197%
- gnomAD_G_AMR: 0.1242%
- gnomAD_G_EAS: 0.1741%
- gnomAD_G_NFE: 0.1912%
- gnomAD_G_SAS: 0.9148%
- Transcripts:
- VWF:ENST00000261405.10:c.657+8084A>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.331956
- REMM: 0.332
- Frequency Data:
- No frequency data
- Transcripts:
- VWF:ENST00000261405.10:c.3686T>G:p.(Val1229Gly)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- UK10K: 0.0529%
- gnomAD_E_AFR: 1.3723%
- gnomAD_E_AMR: 0.1078%
- gnomAD_E_EAS: 0.0731%
- gnomAD_E_NFE: 0.1286%
- gnomAD_E_SAS: 0.5155%
- gnomAD_G_AFR: 1.7899%
- gnomAD_G_AMR: 0.2549%
- gnomAD_G_EAS: 0.1736%
- gnomAD_G_NFE: 0.1867%
- gnomAD_G_SAS: 0.8710%
- Pathogenicity Data:
- Best Score: 0.194814
- REMM: 0.195
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.14993
- REMM: 0.150
- Frequency Data:
- No frequency data
- Transcripts:
- VWF:ENST00000261405.10:c.657+2844_657+2845del:p.(=)
- Pathogenicity Data:
- Best Score: 0.225893
- REMM: 0.226
- Frequency Data:
- gnomAD_G_AFR: 0.7586%
- gnomAD_G_AMR: 1.7878%
- gnomAD_G_EAS: 1.1307%
- gnomAD_G_NFE: 1.1857%
- gnomAD_G_SAS: 1.3472%
- Transcripts:
- VWF:ENST00000261405.10:c.532+7008T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.0803952
- REMM: 0.080
- Frequency Data:
- gnomAD_G_AFR: 0.9061%
- gnomAD_G_AMR: 0.1650%
- gnomAD_G_EAS: 0.1583%
- gnomAD_G_NFE: 0.0661%
- gnomAD_G_SAS: 0.2981%
- Pathogenicity Data:
- Best Score: 0.0547175
- REMM: 0.055
- Frequency Data:
- No frequency data
- Transcripts:
- VWF:ENST00000261405.10:c.5843-2278A>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0360766
- REMM: 0.036
- Frequency Data:
- No frequency data
- Transcripts:
- VWF:ENST00000261405.10:c.2967+315T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.0352052
- REMM: 0.035
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.0210603
- REMM: 0.021
- Frequency Data:
- No frequency data
- Phenotypic similarity 0.643 to B4GALT1-CDG associated with B4GALT1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003186, Inverted nipples
- HP:0006625, Multifocal breast carcinoma - HP:0003186, Inverted nipples
- Phenotypic similarity 0.258 to mouse mutant involving B4GALT1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0002416, abnormal proerythroblast morphology
- HP:0006625, Multifocal breast carcinoma - MP:0002416, abnormal proerythroblast morphology
- Known diseases:
- OMIM:607091 Congenital disorder of glycosylation, type IId - autosomal recessive
- OMIM:620364 Combined low LDL and fibrinogen - autosomal recessive
- ORPHA:79332 B4GALT1-CDG - autosomal recessive
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.497 (p=9.1E-2)
Phenotype Score: 0.643
Variant Score: 0.718
- Phenotype matches to diseases consistent with this MOI:
- Phenotypic similarity 0.643 to ORPHA:79332 B4GALT1-CDG
- Transcripts:
- B4GALT1:ENST00000379731.5:c.648+4677G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.846573
- REMM: 0.847
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.808154
- REMM: 0.808
- Frequency Data:
- gnomAD_G_AFR: 1.0968%
- gnomAD_G_AMR: 0.1224%
- gnomAD_G_EAS: 0.1960%
- gnomAD_G_NFE: 0.1484%
- gnomAD_G_SAS: 0.1265%
AUTOSOMAL_DOMINANT
Exomiser Score: 0.015 (p=4.3E-1)
Phenotype Score: 0.129
Variant Score: 0.847
- Transcripts:
- B4GALT1:ENST00000379731.5:c.648+4677G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.846573
- REMM: 0.847
- Frequency Data:
- No frequency data
- Transcripts:
- B4GALT1:ENST00000379731.5:c.*2169C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.002
- REMM: 0.002
- Frequency Data:
- No frequency data
- Phenotypic similarity 0.554 to mouse mutant involving DNAH11.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0004733, abnormal thoracic cavity morphology
- HP:0006625, Multifocal breast carcinoma - MP:0004733, abnormal thoracic cavity morphology
- Proximity score 0.501 in interactome to FSHR and phenotypic similarity 0.676 to 46,XX gonadal dysgenesis associated with FSHR.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0010311, Aplasia/Hypoplasia of the breasts
- HP:0006625, Multifocal breast carcinoma - HP:0010311, Aplasia/Hypoplasia of the breasts
- Proximity score 0.501 in interactome to FSHR and phenotypic similarity 0.368 to mouse mutant of FSHR.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0000160, kyphosis
- HP:0006625, Multifocal breast carcinoma - MP:0000160, kyphosis
- Known diseases:
- OMIM:611884 Ciliary dyskinesia, primary, 7, with or without situs inversus - autosomal recessive
- ORPHA:244 Primary ciliary dyskinesia - autosomal recessive
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.490 (p=9.3E-2)
Phenotype Score: 0.554
Variant Score: 0.816
- Transcripts:
- DNAH11:ENST00000409508.8:c.7134+424A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.951171
- REMM: 0.951
- Frequency Data:
- No frequency data
- Transcripts:
- DNAH11:ENST00000409508.8:c.10333-2877G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.680525
- REMM: 0.681
- Frequency Data:
- No frequency data
AUTOSOMAL_DOMINANT
Exomiser Score: 0.158 (p=2.2E-1)
Phenotype Score: 0.277
Variant Score: 0.951
- Transcripts:
- DNAH11:ENST00000409508.8:c.7134+424A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.951171
- REMM: 0.951
- Frequency Data:
- No frequency data
- Transcripts:
- DNAH11:ENST00000409508.8:c.6983+2265T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.595381
- REMM: 0.595
- Frequency Data:
- UK10K: 0.4099%
- gnomAD_G_AFR: 0.0769%
- gnomAD_G_AMR: 0.3464%
- gnomAD_G_NFE: 0.3939%
- gnomAD_G_SAS: 0.0207%
- Pathogenicity Data:
- Best Score: 0.544162
- REMM: 0.544
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.475097
- REMM: 0.475
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.475097
- REMM: 0.475
- Frequency Data:
- No frequency data
- Transcripts:
- DNAH11:ENST00000409508.8::
- Pathogenicity Data:
- Best Score: 0.471387
- REMM: 0.471
- Frequency Data:
- No frequency data
- Transcripts:
- DNAH11:ENST00000409508.8:c.1974-231G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.472436
- REMM: 0.472
- Frequency Data:
- UK10K: 0.0264%
- gnomAD_G_AFR: 0.0097%
- gnomAD_G_AMR: 0.0263%
- gnomAD_G_NFE: 0.0191%
- Transcripts:
- DNAH11:ENST00000409508.8:c.5328+7632A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.470229
- REMM: 0.470
- Frequency Data:
- gnomAD_G_EAS: 0.0193%
- Transcripts:
- DNAH11:ENST00000409508.8:c.10692-9217A>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.44816
- REMM: 0.448
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.333759
- REMM: 0.334
- Frequency Data:
- No frequency data
- Transcripts:
- DNAH11:ENST00000409508.8:c.12196-2827del:p.(=)
- Pathogenicity Data:
- Best Score: 0.252791
- REMM: 0.253
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.244503
- REMM: 0.245
- Frequency Data:
- gnomAD_G_AFR: 0.0024%
- gnomAD_G_AMR: 0.0066%
- Pathogenicity Data:
- Best Score: 0.201466
- REMM: 0.201
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.198157
- REMM: 0.198
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.11128
- REMM: 0.111
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.0883675
- REMM: 0.088
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.0883675
- REMM: 0.088
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.0362655
- REMM: 0.036
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.017354
- REMM: 0.017
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.0115687
- REMM: 0.012
- Frequency Data:
- No frequency data
- Transcripts:
- DNAH11:ENST00000409508.8:c.11203-1484A>G:p.(=)
- Pathogenicity Data:
- Best Score: 9.16667E-4
- REMM: 0.001
- Frequency Data:
- gnomAD_G_AMR: 0.0065%
- Transcripts:
- DNAH11:ENST00000409508.8:c.12196-90A>C:p.(=)
- Pathogenicity Data:
- Best Score: 3.33333E-4
- REMM: 0.000
- Frequency Data:
- UK10K: 0.6083%
- gnomAD_E_AFR: 0.0604%
- gnomAD_E_AMR: 0.2375%
- gnomAD_E_EAS: 0.0052%
- gnomAD_E_NFE: 0.4956%
- gnomAD_E_SAS: 1.3519%
- gnomAD_G_AFR: 0.0866%
- gnomAD_G_AMR: 0.3725%
- gnomAD_G_EAS: 0.0386%
- gnomAD_G_NFE: 0.4292%
- gnomAD_G_SAS: 1.7798%
- Transcripts:
- DNAH11:ENST00000409508.8:c.9483+2453C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- UK10K: 0.2116%
- gnomAD_G_AFR: 0.0313%
- gnomAD_G_AMR: 0.1177%
- gnomAD_G_NFE: 0.1573%
- gnomAD_G_SAS: 0.0415%
- Transcripts:
- DNAH11:ENST00000409508.8:c.10692-9218C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- gnomAD_G_AFR: 0.0024%
- Transcripts:
- DNAH11:ENST00000409508.8:c.10897-3844C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- gnomAD_G_AFR: 0.0097%
- gnomAD_G_NFE: 0.0029%
- Transcripts:
- DNAH11:ENST00000409508.8:c.12507+779C>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- No frequency data
- Transcripts:
- DNAH11:ENST00000409508.8:c.12507+781C>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- No frequency data
- Transcripts:
- DNAH11:ENST00000409508.8:c.12750+274G>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- No frequency data
- Proximity score 0.532 in interactome to FLRT3 and phenotypic similarity 0.620 to Kallmann syndrome associated with FLRT3.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003187, Breast hypoplasia
- HP:0006625, Multifocal breast carcinoma - HP:0003187, Breast hypoplasia
AUTOSOMAL_DOMINANT
Exomiser Score: 0.451 (p=1.1E-1)
Phenotype Score: 0.532
Variant Score: 0.823
- Transcripts:
- UNC5B:ENST00000335350.10:c.79+31675G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.823198
- REMM: 0.823
- Frequency Data:
- gnomAD_G_NFE: 0.0015%
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.252 (p=1.7E-1)
Phenotype Score: 0.532
Variant Score: 0.726
- Transcripts:
- UNC5B:ENST00000335350.10:c.79+31675G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.823198
- REMM: 0.823
- Frequency Data:
- gnomAD_G_NFE: 0.0015%
- Transcripts:
- UNC5B:ENST00000335350.10:c.80-33214G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.766201
- REMM: 0.766
- Frequency Data:
- UK10K: 0.5025%
- gnomAD_G_AFR: 0.1469%
- gnomAD_G_AMR: 0.6149%
- gnomAD_G_NFE: 0.8426%
- gnomAD_G_SAS: 0.3108%
- Transcripts:
- UNC5B:ENST00000335350.10:c.80-9480_80-9477del:p.(=)
- Pathogenicity Data:
- Best Score: 0.607271
- REMM: 0.607
- Frequency Data:
- No frequency data
- Transcripts:
- UNC5B:ENST00000335350.10:c.80-9480_80-9473del:p.(=)
- Pathogenicity Data:
- Best Score: 0.607271
- REMM: 0.607
- Frequency Data:
- No frequency data
- Transcripts:
- UNC5B:ENST00000335350.10:c.1706A>G:p.(Asn569Ser)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- gnomAD_E_AFR: 0.0120%
- gnomAD_E_AMR: 0.0278%
- gnomAD_E_EAS: 0.0253%
- gnomAD_E_NFE: 0.0071%
- gnomAD_E_SAS: 0.0192%
- gnomAD_G_AFR: 0.0024%
- gnomAD_G_AMR: 0.0458%
- gnomAD_G_NFE: 0.0088%
- Transcripts:
- UNC5B:ENST00000335350.10::
- Pathogenicity Data:
- Best Score: 0.25967
- REMM: 0.260
- Frequency Data:
- gnomAD_G_AFR: 0.0224%
- gnomAD_G_AMR: 0.1219%
- gnomAD_G_NFE: 0.0528%
- Transcripts:
- UNC5B:ENST00000335350.10:c.80-2212G>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.00248333
- REMM: 0.002
- Frequency Data:
- UK10K: 0.4761%
- gnomAD_G_AFR: 0.0625%
- gnomAD_G_AMR: 0.2939%
- gnomAD_G_NFE: 0.3955%
- gnomAD_G_SAS: 1.3877%
- Transcripts:
- UNC5B:ENST00000335350.10:c.80-28063C>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- UK10K: 0.1851%
- gnomAD_G_AFR: 0.0481%
- gnomAD_G_AMR: 0.1831%
- gnomAD_G_NFE: 0.3454%
- gnomAD_G_SAS: 0.6625%
- Proximity score 0.501 in interactome to CACNA1C and phenotypic similarity 0.643 to Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures associated with CACNA1C.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003186, Inverted nipples
- HP:0006625, Multifocal breast carcinoma - HP:0003186, Inverted nipples
- Proximity score 0.501 in interactome to CACNA1C and phenotypic similarity 0.349 to mouse mutant of CACNA1C.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0002759, abnormal caudal vertebrae morphology
- HP:0006625, Multifocal breast carcinoma - MP:0002759, abnormal caudal vertebrae morphology
- Proximity score 0.501 in interactome to CACNA1C and phenotypic similarity 0.255 to fish mutant of CACNA1C.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - ZP:0001052, mandibular arch skeleton morphology, abnormal
- HP:0006625, Multifocal breast carcinoma - ZP:0001052, mandibular arch skeleton morphology, abnormal
- Known diseases:
- OMIM:620196 Spermatogenic failure 79 - autosomal recessive
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.435 (p=1.1E-1)
Phenotype Score: 0.501
Variant Score: 0.851
- Transcripts:
- KCNU1:ENST00000399881.8:c.2010-3973G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.904214
- REMM: 0.904
- Frequency Data:
- gnomAD_G_AMR: 0.0131%
- gnomAD_G_NFE: 0.0235%
- Transcripts:
- KCNU1:ENST00000399881.8:c.1892-7296T>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.800579
- REMM: 0.801
- Frequency Data:
- No frequency data
AUTOSOMAL_DOMINANT
Exomiser Score: 0.083 (p=2.8E-1)
Phenotype Score: 0.251
Variant Score: 0.901
- Transcripts:
- KCNU1:ENST00000399881.8:c.2010-3973G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.904214
- REMM: 0.904
- Frequency Data:
- gnomAD_G_AMR: 0.0131%
- gnomAD_G_NFE: 0.0235%
- Transcripts:
- KCNU1:ENST00000399881.8:c.1063G>A:p.(Asp355Asn)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- UK10K: 0.0397%
- gnomAD_E_AFR: 0.0090%
- gnomAD_E_AMR: 0.0022%
- gnomAD_E_NFE: 0.0482%
- gnomAD_G_AFR: 0.0098%
- gnomAD_G_EAS: 0.0198%
- gnomAD_G_NFE: 0.0325%
- Transcripts:
- KCNU1:ENST00000399881.8:c.733-93T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.480227
- REMM: 0.480
- Frequency Data:
- gnomAD_E_AMR: 0.0273%
- gnomAD_E_NFE: 0.0243%
- gnomAD_E_SAS: 0.0037%
- gnomAD_G_AFR: 0.0072%
- gnomAD_G_AMR: 0.0196%
- gnomAD_G_NFE: 0.0353%
- Transcripts:
- KCNU1:ENST00000399881.8:c.1891+8382T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.403434
- REMM: 0.403
- Frequency Data:
- UK10K: 0.2380%
- gnomAD_G_AFR: 0.0770%
- gnomAD_G_AMR: 0.1177%
- gnomAD_G_NFE: 0.4339%
- gnomAD_G_SAS: 0.1656%
- Transcripts:
- KCNU1:ENST00000399881.8:c.1106+7687A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.345351
- REMM: 0.345
- Frequency Data:
- gnomAD_G_AMR: 0.0131%
- gnomAD_G_NFE: 0.0191%
- Transcripts:
- KCNU1:ENST00000399881.8:c.2010-14926T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.341156
- REMM: 0.341
- Frequency Data:
- No frequency data
- Transcripts:
- KCNU1:ENST00000399881.8:c.2106+1386G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0223746
- REMM: 0.022
- Frequency Data:
- gnomAD_G_AFR: 0.0337%
- gnomAD_G_AMR: 0.0458%
- gnomAD_G_NFE: 0.0942%
- Transcripts:
- KCNU1:ENST00000399881.8:c.2521+3488G>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.001
- REMM: 0.001
- Frequency Data:
- gnomAD_G_NFE: 0.0029%
- Transcripts:
- KCNU1:ENST00000399881.8:c.2009+1253del:p.(=)
- Pathogenicity Data:
- Best Score: 9.61905E-4
- REMM: 0.001
- Frequency Data:
- No frequency data
- Transcripts:
- KCNU1:ENST00000399881.8:c.316-6199C>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- gnomAD_G_AMR: 0.0131%
- gnomAD_G_NFE: 0.0191%
- Transcripts:
- KCNU1:ENST00000399881.8:c.1704-1916C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- gnomAD_G_NFE: 0.0015%
- Transcripts:
- KCNU1:ENST00000399881.8:c.2931+878G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- gnomAD_G_AMR: 0.0131%
- gnomAD_G_NFE: 0.0191%
- Phenotypic similarity 0.366 to mouse mutant involving ACVR2B.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0000150, abnormal rib morphology
- HP:0006625, Multifocal breast carcinoma - MP:0000150, abnormal rib morphology
- Phenotypic similarity 0.261 to zebrafish mutant involving ACVR2B.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - ZP:0009685, endochondral bone aplastic, abnormal
- HP:0006625, Multifocal breast carcinoma - ZP:0009685, endochondral bone aplastic, abnormal
- Proximity score 0.503 in interactome to BMP6 and phenotypic similarity 0.614 to Symptomatic form of HFE-related hemochromatosis associated with BMP6.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0000771, Gynecomastia
- HP:0006625, Multifocal breast carcinoma - HP:0000771, Gynecomastia
- Proximity score 0.503 in interactome to BMP6 and phenotypic similarity 0.372 to mouse mutant of BMP6.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0004174, abnormal spine curvature
- HP:0006625, Multifocal breast carcinoma - MP:0004174, abnormal spine curvature
- Known diseases:
- OMIM:613751 Heterotaxy, visceral, 4, autosomal - autosomal dominant
AUTOSOMAL_DOMINANT
Exomiser Score: 0.419 (p=1.2E-1)
Phenotype Score: 0.503
Variant Score: 0.842
- Transcripts:
- ACVR2B:ENST00000352511.5:c.53-5848C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.842456
- REMM: 0.842
- Frequency Data:
- No frequency data
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.032 (p=3.6E-1)
Phenotype Score: 0.251
Variant Score: 0.791
- Transcripts:
- ACVR2B:ENST00000352511.5:c.53-5848C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.842456
- REMM: 0.842
- Frequency Data:
- No frequency data
- Transcripts:
- ACVR2B:ENST00000352511.5:c.*9429_*9472del:p.(=)
- Pathogenicity Data:
- Best Score: 0.740418
- REMM: 0.740
- Frequency Data:
- No frequency data
- Phenotypic similarity 0.643 to Peroxisomal acyl-CoA oxidase deficiency associated with ACOX1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003186, Inverted nipples
- HP:0006625, Multifocal breast carcinoma - HP:0003186, Inverted nipples
- Known diseases:
- OMIM:264470 Peroxisomal acyl-CoA oxidase deficiency - autosomal recessive
- OMIM:618960 Mitchell syndrome - autosomal dominant
- ORPHA:2971 Peroxisomal acyl-CoA oxidase deficiency - autosomal recessive
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.415 (p=1.2E-1)
Phenotype Score: 0.643
Variant Score: 0.682
- Phenotype matches to diseases consistent with this MOI:
- Phenotypic similarity 0.643 to OMIM:264470 Peroxisomal acyl-CoA oxidase deficiency
- Transcripts:
- ACOX1:ENST00000293217.10:c.-76C>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.746783
- REMM: 0.747
- Frequency Data:
- UK10K: 0.0661%
- gnomAD_E_AFR: 0.1386%
- gnomAD_E_AMR: 0.1372%
- gnomAD_E_NFE: 0.0680%
- gnomAD_E_SAS: 0.0954%
- gnomAD_G_AFR: 0.0361%
- gnomAD_G_AMR: 0.2092%
- gnomAD_G_NFE: 0.0809%
- gnomAD_G_SAS: 0.1243%
- Pathogenicity Data:
- Best Score: 0.640655
- REMM: 0.641
- Frequency Data:
- No frequency data
AUTOSOMAL_DOMINANT
Exomiser Score: 0.001 (p=7.7E-1)
Phenotype Score: 0.000
Variant Score: 0.641
- Pathogenicity Data:
- Best Score: 0.640655
- REMM: 0.641
- Frequency Data:
- No frequency data
- Transcripts:
- ACOX1:ENST00000293217.10:c.*4318del:p.(=)
- Pathogenicity Data:
- Best Score: 0.461417
- REMM: 0.461
- Frequency Data:
- No frequency data
- Transcripts:
- ACOX1:ENST00000293217.10:c.270-789T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.274656
- REMM: 0.275
- Frequency Data:
- UK10K: 0.4761%
- gnomAD_G_AFR: 0.1120%
- gnomAD_G_AMR: 0.4709%
- gnomAD_G_NFE: 0.5566%
- Pathogenicity Data:
- Best Score: 0.117618
- REMM: 0.118
- Frequency Data:
- No frequency data
- Transcripts:
- ACOX1:ENST00000293217.10:c.269+7921T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.0427171
- REMM: 0.043
- Frequency Data:
- No frequency data
- Transcripts:
- ACOX1:ENST00000293217.10:c.538+480_538+513del:p.(=)
- Pathogenicity Data:
- Best Score: 0.0228599
- REMM: 0.023
- Frequency Data:
- gnomAD_G_AFR: 0.5358%
- gnomAD_G_AMR: 0.1701%
- gnomAD_G_EAS: 0.0865%
- gnomAD_G_NFE: 0.0274%
- Pathogenicity Data:
- Best Score: 0.0155361
- REMM: 0.016
- Frequency Data:
- No frequency data
- Transcripts:
- ACOX1:ENST00000293217.10:c.*2267A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.00524444
- REMM: 0.005
- Frequency Data:
- UK10K: 0.0793%
- gnomAD_G_AFR: 0.0313%
- gnomAD_G_AMR: 0.1700%
- gnomAD_G_NFE: 0.0750%
- gnomAD_G_SAS: 0.1244%
- Proximity score 0.505 in interactome to CYP11A1 and phenotypic similarity 0.614 to 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency associated with CYP11A1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0000771, Gynecomastia
- HP:0006625, Multifocal breast carcinoma - HP:0000771, Gynecomastia
- Known diseases:
- OMIM:270800 Spastic paraplegia 5A, autosomal recessive - autosomal recessive
- OMIM:613812 Bile acid synthesis defect, congenital, 3 - autosomal recessive
- ORPHA:100986 Autosomal recessive spastic paraplegia type 5A - autosomal recessive
- ORPHA:79302 Congenital bile acid synthesis defect type 3 - autosomal recessive
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.409 (p=1.2E-1)
Phenotype Score: 0.505
Variant Score: 0.835
- Transcripts:
- CYP7B1:ENST00000310193.4:c.123-16392C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.990633
- REMM: 0.991
- Frequency Data:
- UK10K: 0.1984%
- gnomAD_G_AFR: 0.0217%
- gnomAD_G_NFE: 0.1852%
- Transcripts:
- CYP7B1:ENST00000310193.4:c.1234-1694C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.772985
- REMM: 0.773
- Frequency Data:
- UK10K: 0.0926%
- gnomAD_G_AFR: 0.0024%
- gnomAD_G_AMR: 0.4773%
- gnomAD_G_EAS: 0.0386%
- gnomAD_G_NFE: 0.0764%
- gnomAD_G_SAS: 0.3944%
AUTOSOMAL_DOMINANT
Exomiser Score: 0.001 (p=7.7E-1)
Phenotype Score: 0.253
Variant Score: 0.355
- Pathogenicity Data:
- Best Score: 0.354968
- REMM: 0.355
- Frequency Data:
- No frequency data
- Transcripts:
- CYP7B1:ENST00000310193.4:c.122+26954del:p.(=)
- Pathogenicity Data:
- Best Score: 0.527996
- REMM: 0.528
- Frequency Data:
- UK10K: 0.1851%
- gnomAD_G_AFR: 0.0241%
- gnomAD_G_NFE: 0.1779%
- Pathogenicity Data:
- Best Score: 0.38424
- REMM: 0.384
- Frequency Data:
- No frequency data
- Transcripts:
- CYP7B1:ENST00000310193.4:c.123-426_123-413del:p.(=)
- Pathogenicity Data:
- Best Score: 0.310672
- REMM: 0.311
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.291415
- REMM: 0.291
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.156926
- REMM: 0.157
- Frequency Data:
- No frequency data
- Transcripts:
- CYP7B1:ENST00000310193.4:c.122+53087C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.134363
- REMM: 0.134
- Frequency Data:
- No frequency data
- Transcripts:
- CYP7B1:ENST00000310193.4:c.123-62303A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0682107
- REMM: 0.068
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.00555675
- REMM: 0.006
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.00151667
- REMM: 0.002
- Frequency Data:
- No frequency data
- Phenotypic similarity 0.211 to zebrafish mutant involving AUTS2.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - ZP:0005071, Meckel's cartilage decreased distance ceratohyal cartilage, abnormal
- HP:0006625, Multifocal breast carcinoma - ZP:0005071, Meckel's cartilage decreased distance ceratohyal cartilage, abnormal
- Proximity score 0.502 in interactome to DYRK1A and phenotypic similarity 0.618 to DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion associated with DYRK1A.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0100783, Breast aplasia
- HP:0006625, Multifocal breast carcinoma - HP:0100783, Breast aplasia
- Known diseases:
- OMIM:615834 Intellectual developmental disorder, autosomal dominant 26 - autosomal dominant
- ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency - autosomal dominant
AUTOSOMAL_DOMINANT
Exomiser Score: 0.408 (p=1.2E-1)
Phenotype Score: 0.502
Variant Score: 0.838
- Pathogenicity Data:
- Best Score: 0.837735
- REMM: 0.838
- Frequency Data:
- No frequency data
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.041 (p=3.4E-1)
Phenotype Score: 0.251
Variant Score: 0.819
- Pathogenicity Data:
- Best Score: 0.837735
- REMM: 0.838
- Frequency Data:
- No frequency data
- Transcripts:
- AUTS2:ENST00000342771.10:c.660+99425A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.801198
- REMM: 0.801
- Frequency Data:
- No frequency data
- Transcripts:
- AUTS2:ENST00000342771.10:c.691-99752T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.756746
- REMM: 0.757
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.737998
- REMM: 0.738
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.709635
- REMM: 0.710
- Frequency Data:
- No frequency data
- Transcripts:
- AUTS2:ENST00000342771.10:c.690+24558del:p.(=)
- Pathogenicity Data:
- Best Score: 0.704625
- REMM: 0.705
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.712496
- REMM: 0.712
- Frequency Data:
- UK10K: 0.0132%
- gnomAD_G_AFR: 0.0024%
- gnomAD_G_AMR: 0.1246%
- gnomAD_G_NFE: 0.0632%
- gnomAD_G_SAS: 0.0207%
- Transcripts:
- AUTS2:ENST00000342771.10::
- Pathogenicity Data:
- Best Score: 0.608175
- REMM: 0.608
- Frequency Data:
- No frequency data
- Transcripts:
- AUTS2:ENST00000342771.10::
- Pathogenicity Data:
- Best Score: 0.608175
- REMM: 0.608
- Frequency Data:
- No frequency data
- Transcripts:
- AUTS2:ENST00000342771.10:c.742+16983C>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.611292
- REMM: 0.611
- Frequency Data:
- UK10K: 0.0132%
- gnomAD_G_AFR: 0.0217%
- gnomAD_G_AMR: 0.1706%
- gnomAD_G_NFE: 0.0809%
- gnomAD_G_SAS: 0.0623%
- Pathogenicity Data:
- Best Score: 0.595936
- REMM: 0.596
- Frequency Data:
- gnomAD_G_AFR: 0.0029%
- gnomAD_G_NFE: 0.0052%
- gnomAD_G_SAS: 0.0253%
- Pathogenicity Data:
- Best Score: 0.563562
- REMM: 0.564
- Frequency Data:
- No frequency data
- Transcripts:
- AUTS2:ENST00000342771.10:c.742+24642T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.592367
- REMM: 0.592
- Frequency Data:
- UK10K: 0.2645%
- gnomAD_G_AFR: 0.0433%
- gnomAD_G_AMR: 0.3267%
- gnomAD_G_NFE: 0.2205%
- gnomAD_G_SAS: 0.0414%
- Transcripts:
- AUTS2:ENST00000342771.10:c.523-67623T>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.549651
- REMM: 0.550
- Frequency Data:
- gnomAD_G_AFR: 0.0024%
- gnomAD_G_AMR: 0.1246%
- gnomAD_G_NFE: 0.0632%
- gnomAD_G_SAS: 0.0207%
- Pathogenicity Data:
- Best Score: 0.535002
- REMM: 0.535
- Frequency Data:
- gnomAD_G_AFR: 0.0025%
- Pathogenicity Data:
- Best Score: 0.513569
- REMM: 0.514
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.513569
- REMM: 0.514
- Frequency Data:
- No frequency data
- Transcripts:
- AUTS2:ENST00000342771.10::
- Pathogenicity Data:
- Best Score: 0.495502
- REMM: 0.496
- Frequency Data:
- No frequency data
- Transcripts:
- AUTS2:ENST00000342771.10::
- Pathogenicity Data:
- Best Score: 0.495502
- REMM: 0.496
- Frequency Data:
- gnomAD_G_AFR: 0.0080%
- gnomAD_G_NFE: 0.0035%
- Pathogenicity Data:
- Best Score: 0.494077
- REMM: 0.494
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.488265
- REMM: 0.488
- Frequency Data:
- No frequency data
- Transcripts:
- AUTS2:ENST00000342771.10::
- Pathogenicity Data:
- Best Score: 0.472581
- REMM: 0.473
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.472525
- REMM: 0.473
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.458692
- REMM: 0.459
- Frequency Data:
- No frequency data
- Transcripts:
- AUTS2:ENST00000342771.10:c.743-19401del:p.(=)
- Pathogenicity Data:
- Best Score: 0.443945
- REMM: 0.444
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.443945
- REMM: 0.444
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.439583
- REMM: 0.440
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.437785
- REMM: 0.438
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.389554
- REMM: 0.390
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.368785
- REMM: 0.369
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.34591
- REMM: 0.346
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.326252
- REMM: 0.326
- Frequency Data:
- No frequency data
- Transcripts:
- AUTS2:ENST00000342771.10:c.690+1173T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.990589
- REMM: 0.991
- Frequency Data:
- UK10K: 1.6794%
- gnomAD_G_AFR: 0.2861%
- gnomAD_G_AMR: 1.5171%
- gnomAD_G_NFE: 1.8272%
- gnomAD_G_SAS: 1.1397%
- Pathogenicity Data:
- Best Score: 0.246773
- REMM: 0.247
- Frequency Data:
- No frequency data
- Transcripts:
- AUTS2:ENST00000342771.10:c.660+67399C>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.22628
- REMM: 0.226
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.221889
- REMM: 0.222
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.182338
- REMM: 0.182
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.142941
- REMM: 0.143
- Frequency Data:
- gnomAD_G_AFR: 0.0822%
- gnomAD_G_EAS: 0.0491%
- gnomAD_G_SAS: 0.0390%
- Pathogenicity Data:
- Best Score: 0.138884
- REMM: 0.139
- Frequency Data:
- gnomAD_G_AFR: 0.0186%
- gnomAD_G_EAS: 0.0352%
- gnomAD_G_NFE: 0.0073%
- Transcripts:
- AUTS2:ENST00000342771.10:c.691-8793del:p.(=)
- Pathogenicity Data:
- Best Score: 0.137515
- REMM: 0.138
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.130537
- REMM: 0.131
- Frequency Data:
- No frequency data
- Transcripts:
- AUTS2:ENST00000342771.10:c.660+67469G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.124494
- REMM: 0.124
- Frequency Data:
- No frequency data
- Transcripts:
- AUTS2:ENST00000342771.10:c.523-79040C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.478073
- REMM: 0.478
- Frequency Data:
- UK10K: 1.6794%
- gnomAD_G_AFR: 0.3332%
- gnomAD_G_AMR: 1.4299%
- gnomAD_G_NFE: 1.8886%
- gnomAD_G_SAS: 1.0824%
- Pathogenicity Data:
- Best Score: 0.0880492
- REMM: 0.088
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.0844425
- REMM: 0.084
- Frequency Data:
- No frequency data
- Transcripts:
- AUTS2:ENST00000342771.10:c.2531+144C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0778694
- REMM: 0.078
- Frequency Data:
- gnomAD_E_NFE: 0.0014%
- gnomAD_E_SAS: 0.0022%
- gnomAD_G_AFR: 0.0024%
- gnomAD_G_NFE: 0.0015%
- Transcripts:
- AUTS2:ENST00000342771.10:c.690+61263A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0706746
- REMM: 0.071
- Frequency Data:
- gnomAD_G_AFR: 0.5099%
- gnomAD_G_AMR: 0.1190%
- gnomAD_G_EAS: 0.1793%
- gnomAD_G_NFE: 0.2636%
- gnomAD_G_SAS: 0.4084%
- Transcripts:
- AUTS2:ENST00000342771.10:c.661-122064C>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0613246
- REMM: 0.061
- Frequency Data:
- gnomAD_G_AFR: 0.0024%
- gnomAD_G_AMR: 0.0916%
- gnomAD_G_NFE: 0.0500%
- Transcripts:
- AUTS2:ENST00000342771.10:c.660+68103A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0431425
- REMM: 0.043
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.041106
- REMM: 0.041
- Frequency Data:
- No frequency data
- Transcripts:
- AUTS2:ENST00000342771.10:c.523-103505C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0207333
- REMM: 0.021
- Frequency Data:
- No frequency data
- Transcripts:
- AUTS2:ENST00000342771.10:c.660+68325C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.015675
- REMM: 0.016
- Frequency Data:
- No frequency data
- Transcripts:
- AUTS2:ENST00000342771.10:c.691-68312A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0407575
- REMM: 0.041
- Frequency Data:
- UK10K: 1.6662%
- gnomAD_G_AFR: 0.3162%
- gnomAD_G_AMR: 1.7413%
- gnomAD_G_NFE: 1.6482%
- gnomAD_G_SAS: 1.1686%
- Pathogenicity Data:
- Best Score: 0.0255841
- REMM: 0.026
- Frequency Data:
- gnomAD_G_AFR: 0.4288%
- gnomAD_G_AMR: 1.0185%
- gnomAD_G_EAS: 1.4925%
- gnomAD_G_NFE: 0.5050%
- gnomAD_G_SAS: 0.4992%
- Transcripts:
- AUTS2:ENST00000342771.10:c.690+61438G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0221278
- REMM: 0.022
- Frequency Data:
- UK10K: 1.3488%
- gnomAD_G_AFR: 0.2401%
- gnomAD_G_AMR: 1.0044%
- gnomAD_G_NFE: 1.2111%
- gnomAD_G_SAS: 0.9151%
- Transcripts:
- AUTS2:ENST00000342771.10:c.660+68326A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0127583
- REMM: 0.013
- Frequency Data:
- No frequency data
- Transcripts:
- AUTS2:ENST00000342771.10:c.660+65057A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0125901
- REMM: 0.013
- Frequency Data:
- No frequency data
- Transcripts:
- AUTS2:ENST00000342771.10:c.522+104571T>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0120504
- REMM: 0.012
- Frequency Data:
- gnomAD_G_AFR: 0.4513%
- gnomAD_G_AMR: 0.5077%
- gnomAD_G_EAS: 0.3100%
- gnomAD_G_NFE: 0.9596%
- gnomAD_G_SAS: 0.5160%
- Transcripts:
- AUTS2:ENST00000342771.10:c.660+65364C>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.00674722
- REMM: 0.007
- Frequency Data:
- No frequency data
- Transcripts:
- AUTS2:ENST00000342771.10:c.660+65609T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.00538056
- REMM: 0.005
- Frequency Data:
- No frequency data
- Transcripts:
- AUTS2:ENST00000342771.10:c.661-118883G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.00467063
- REMM: 0.005
- Frequency Data:
- gnomAD_G_AFR: 0.0048%
- gnomAD_G_AMR: 0.1112%
- gnomAD_G_NFE: 0.0573%
- Transcripts:
- AUTS2:ENST00000342771.10:c.660+65869C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0042377
- REMM: 0.004
- Frequency Data:
- gnomAD_G_AFR: 0.3676%
- gnomAD_G_AMR: 0.6944%
- Transcripts:
- AUTS2:ENST00000342771.10:c.743-29320A>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.001
- REMM: 0.001
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 9.5E-4
- REMM: 0.001
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 7.5E-4
- REMM: 0.001
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 7.5E-4
- REMM: 0.001
- Frequency Data:
- No frequency data
- Transcripts:
- AUTS2:ENST00000342771.10:c.660+34355C>T:p.(=)
- Pathogenicity Data:
- Best Score: 5.0E-4
- REMM: 0.001
- Frequency Data:
- gnomAD_G_SAS: 0.0209%
- Transcripts:
- AUTS2:ENST00000342771.10:c.742+10545C>G:p.(=)
- Pathogenicity Data:
- Best Score: 1.11111E-4
- REMM: 0.000
- Frequency Data:
- gnomAD_G_AFR: 0.0048%
- gnomAD_G_AMR: 0.0982%
- gnomAD_G_NFE: 0.0338%
- gnomAD_G_SAS: 0.0208%
- Transcripts:
- AUTS2:ENST00000342771.10:c.523-66553C>T:p.(=)
- Pathogenicity Data:
- Best Score: 1.0E-4
- REMM: 0.000
- Frequency Data:
- gnomAD_G_AFR: 0.0169%
- gnomAD_G_NFE: 0.0044%
- gnomAD_G_SAS: 0.3120%
- Pathogenicity Data:
- Best Score: 2.0E-4
- REMM: 0.000
- Frequency Data:
- gnomAD_G_AFR: 0.4413%
- gnomAD_G_AMR: 1.8396%
- gnomAD_G_EAS: 1.5698%
- gnomAD_G_NFE: 1.6083%
- gnomAD_G_SAS: 1.2140%
- Transcripts:
- AUTS2:ENST00000342771.10:c.310-112899C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- gnomAD_G_AFR: 0.2242%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 0.0044%
- gnomAD_G_SAS: 0.0832%
- Transcripts:
- AUTS2:ENST00000342771.10:c.523-53642A>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- No frequency data
- Transcripts:
- AUTS2:ENST00000342771.10:c.660+88318del:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- gnomAD_G_AFR: 1.4601%
- gnomAD_G_AMR: 0.3200%
- gnomAD_G_EAS: 0.1976%
- gnomAD_G_NFE: 0.2176%
- gnomAD_G_SAS: 0.4983%
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- gnomAD_G_AFR: 0.3004%
- gnomAD_G_AMR: 0.3444%
- gnomAD_G_EAS: 0.5006%
- gnomAD_G_NFE: 0.2269%
- Phenotypic similarity 0.620 to Kallmann syndrome associated with FGFR1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003187, Breast hypoplasia
- HP:0006625, Multifocal breast carcinoma - HP:0003187, Breast hypoplasia
- Phenotypic similarity 0.392 to mouse mutant involving FGFR1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0002114, abnormal axial skeleton morphology
- HP:0006625, Multifocal breast carcinoma - MP:0002114, abnormal axial skeleton morphology
- Phenotypic similarity 0.273 to zebrafish mutant involving FGFR1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - ZP:0009706, scale increased size, abnormal
- HP:0006625, Multifocal breast carcinoma - ZP:0009706, scale increased size, abnormal
- Known diseases:
- OMIM:101600 Pfeiffer syndrome - autosomal dominant
- OMIM:123150 Jackson-Weiss syndrome - autosomal dominant
- OMIM:147950 Hypogonadotropic hypogonadism 2 with or without anosmia - autosomal dominant
- OMIM:166250 Osteoglophonic dysplasia - autosomal dominant
- OMIM:190440 Trigonocephaly 1 - autosomal dominant
- OMIM:613001 Encephalocraniocutaneous lipomatosis, somatic mosaic - somatic
- OMIM:615465 Hartsfield syndrome - autosomal dominant
- ORPHA:2117 Hartsfield syndrome - autosomal dominant
- ORPHA:220386 Semilobar holoprosencephaly - polygenic
- ORPHA:2396 Encephalocraniocutaneous lipomatosis (unconfirmed)
- ORPHA:2645 Osteoglosphonic dysplasia - autosomal dominant
- ORPHA:280200 Microform holoprosencephaly - polygenic
- ORPHA:3157 Septo-optic dysplasia spectrum - autosomal dominant/recessive
- ORPHA:3366 Non-syndromic metopic craniosynostosis - autosomal dominant
- ORPHA:432 Normosmic congenital hypogonadotropic hypogonadism - autosomal dominant
- ORPHA:478 Kallmann syndrome - autosomal dominant
- ORPHA:93258 Pfeiffer syndrome type 1 - autosomal dominant
- ORPHA:93924 Lobar holoprosencephaly - polygenic
- ORPHA:99798 Oligodontia - autosomal dominant/recessive
AUTOSOMAL_DOMINANT
Exomiser Score: 0.406 (p=1.2E-1)
Phenotype Score: 0.620
Variant Score: 0.704
- Phenotype matches to diseases consistent with this MOI:
- Phenotypic similarity 0.620 to ORPHA:478 Kallmann syndrome
- Phenotypic similarity 0.616 to ORPHA:432 Normosmic congenital hypogonadotropic hypogonadism
- Phenotypic similarity 0.614 to OMIM:147950 Hypogonadotropic hypogonadism 2 with or without anosmia
- Phenotypic similarity 0.428 to OMIM:166250 Osteoglophonic dysplasia
- Phenotypic similarity 0.380 to ORPHA:2645 Osteoglosphonic dysplasia
- Transcripts:
- FGFR1:ENST00000447712.7:c.937-203G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.707703
- REMM: 0.708
- Frequency Data:
- UK10K: 0.0397%
- gnomAD_E_AFR: 0.0077%
- gnomAD_E_AMR: 0.0042%
- gnomAD_E_EAS: 0.0068%
- gnomAD_E_NFE: 0.0320%
- gnomAD_E_SAS: 0.0101%
- gnomAD_G_AFR: 0.0120%
- gnomAD_G_EAS: 0.0386%
- gnomAD_G_NFE: 0.0294%
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.058 (p=3.1E-1)
Phenotype Score: 0.392
Variant Score: 0.700
- Transcripts:
- FGFR1:ENST00000447712.7:c.937-203G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.707703
- REMM: 0.708
- Frequency Data:
- UK10K: 0.0397%
- gnomAD_E_AFR: 0.0077%
- gnomAD_E_AMR: 0.0042%
- gnomAD_E_EAS: 0.0068%
- gnomAD_E_NFE: 0.0320%
- gnomAD_E_SAS: 0.0101%
- gnomAD_G_AFR: 0.0120%
- gnomAD_G_EAS: 0.0386%
- gnomAD_G_NFE: 0.0294%
- Transcripts:
- FGFR1:ENST00000447712.7:c.91+10254_91+10257del:p.(=)
- Pathogenicity Data:
- Best Score: 0.696048
- REMM: 0.696
- Frequency Data:
- No frequency data
- Transcripts:
- FGFR1:ENST00000447712.7:c.91+13304del:p.(=)
- Pathogenicity Data:
- Best Score: 0.628283
- REMM: 0.628
- Frequency Data:
- No frequency data
- Transcripts:
- FGFR1:ENST00000447712.7:c.496C>T:p.(His166Tyr)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- gnomAD_E_NFE: 0.0001%
- gnomAD_E_SAS: 0.0012%
- Transcripts:
- FGFR1:ENST00000447712.7:c.91+7700G>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.677398
- REMM: 0.677
- Frequency Data:
- UK10K: 0.8860%
- gnomAD_G_AFR: 0.2003%
- gnomAD_G_AMR: 0.8288%
- gnomAD_G_NFE: 1.0659%
- gnomAD_G_SAS: 1.2424%
- Pathogenicity Data:
- Best Score: 0.328008
- REMM: 0.328
- Frequency Data:
- gnomAD_G_AFR: 0.7057%
- gnomAD_G_AMR: 0.4104%
- gnomAD_G_EAS: 0.1067%
- gnomAD_G_NFE: 0.2314%
- gnomAD_G_SAS: 0.2440%
- Transcripts:
- FGFR1:ENST00000447712.7:c.1664-152T>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0631976
- REMM: 0.063
- Frequency Data:
- UK10K: 0.6215%
- gnomAD_E_AFR: 0.8943%
- gnomAD_E_AMR: 0.3130%
- gnomAD_E_EAS: 0.0192%
- gnomAD_E_NFE: 0.5168%
- gnomAD_E_SAS: 0.1993%
- gnomAD_G_AFR: 0.7247%
- gnomAD_G_AMR: 0.3145%
- gnomAD_G_EAS: 0.0774%
- gnomAD_G_NFE: 0.5945%
- gnomAD_G_SAS: 0.1245%
- Transcripts:
- FGFR1:ENST00000447712.7:c.92-100G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.00830198
- REMM: 0.008
- Frequency Data:
- gnomAD_E_AMR: 0.0134%
- gnomAD_E_NFE: 0.0045%
- gnomAD_E_SAS: 0.0016%
- gnomAD_G_NFE: 0.0029%
- Transcripts:
- FGFR1:ENST00000447712.7:c.91+1562C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.00670675
- REMM: 0.007
- Frequency Data:
- UK10K: 0.1190%
- gnomAD_G_AFR: 0.0385%
- gnomAD_G_AMR: 0.2944%
- gnomAD_G_NFE: 0.2897%
- gnomAD_G_SAS: 1.2453%
- Transcripts:
- FGFR1:ENST00000447712.7:c.359-602A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.00183095
- REMM: 0.002
- Frequency Data:
- No frequency data
- Transcripts:
- FGFR1:ENST00000447712.7:c.1284+171T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.00170397
- REMM: 0.002
- Frequency Data:
- UK10K: 0.1190%
- gnomAD_G_AFR: 0.0457%
- gnomAD_G_AMR: 0.3922%
- gnomAD_G_NFE: 0.3367%
- gnomAD_G_SAS: 0.9324%
- Phenotypic similarity 0.293 to mouse mutant involving LAMB3.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0002100, abnormal tooth morphology
- HP:0006625, Multifocal breast carcinoma - MP:0002100, abnormal tooth morphology
- Proximity score 0.502 in interactome to ITGA3 and phenotypic similarity 0.603 to Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome associated with ITGA3.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0000771, Gynecomastia
- HP:0006625, Multifocal breast carcinoma - HP:0000771, Gynecomastia
- Known diseases:
- OMIM:104530 Amelogenesis imperfecta, type IA - autosomal dominant
- OMIM:226650 Epidermolysis bullosa, junctional 1A, intermediate - autosomal recessive
- OMIM:226700 Epidermolysis bullosa, junctional 1B, severe - autosomal recessive
- ORPHA:79402 Intermediate generalized junctional epidermolysis bullosa - autosomal recessive
- ORPHA:79404 Severe generalized junctional epidermolysis bullosa - autosomal recessive
AUTOSOMAL_DOMINANT
Exomiser Score: 0.393 (p=1.2E-1)
Phenotype Score: 0.502
Variant Score: 0.831
- Transcripts:
- LAMB3:ENST00000356082.9:c.1598-151T>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.831678
- REMM: 0.832
- Frequency Data:
- gnomAD_E_NFE: 0.0016%
- gnomAD_E_SAS: 0.0020%
- gnomAD_G_NFE: 0.0015%
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.181 (p=2.1E-1)
Phenotype Score: 0.502
Variant Score: 0.714
- Transcripts:
- LAMB3:ENST00000356082.9:c.1598-151T>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.831678
- REMM: 0.832
- Frequency Data:
- gnomAD_E_NFE: 0.0016%
- gnomAD_E_SAS: 0.0020%
- gnomAD_G_NFE: 0.0015%
- Pathogenicity Data:
- Best Score: 0.5973
- REMM: 0.597
- Frequency Data:
- No frequency data
- Transcripts:
- LAMB3:ENST00000356082.9:c.3204C>T:p.(=)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- gnomAD_E_AFR: 0.0030%
- gnomAD_E_AMR: 0.0045%
- gnomAD_E_EAS: 0.0050%
- gnomAD_E_NFE: 0.0070%
- gnomAD_E_SAS: 0.0128%
- gnomAD_G_AFR: 0.0024%
- gnomAD_G_NFE: 0.0015%
- Phenotypic similarity 0.573 to Sialuria associated with GNE.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0002557, Hypoplastic nipples
- HP:0006625, Multifocal breast carcinoma - HP:0002557, Hypoplastic nipples
- Proximity score 0.502 in interactome to CDKN2A and phenotypic similarity 0.998 to Familial pancreatic carcinoma associated with CDKN2A.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003002, Breast carcinoma
- HP:0006625, Multifocal breast carcinoma - HP:0003002, Breast carcinoma
- Proximity score 0.502 in interactome to CDKN2A and phenotypic similarity 0.290 to mouse mutant of CDKN2A.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0003789, increased osteosarcoma incidence
- HP:0006625, Multifocal breast carcinoma - MP:0003789, increased osteosarcoma incidence
- Known diseases:
- OMIM:269921 Sialuria - autosomal dominant
- OMIM:605820 Nonaka myopathy - autosomal recessive
- ORPHA:3166 Sialuria - autosomal dominant
- ORPHA:602 GNE myopathy - autosomal recessive
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.384 (p=1.3E-1)
Phenotype Score: 0.502
Variant Score: 0.828
- Phenotype matches to diseases consistent with this MOI:
- Phenotypic similarity 0.368 to ORPHA:602 GNE myopathy
- Pathogenicity Data:
- Best Score: 0.876438
- REMM: 0.876
- Frequency Data:
- UK10K: 0.0397%
- gnomAD_E_AFR: 0.0992%
- gnomAD_E_AMR: 0.2765%
- gnomAD_E_NFE: 0.0956%
- gnomAD_E_SAS: 0.0447%
- gnomAD_G_AFR: 0.0216%
- gnomAD_G_AMR: 0.2482%
- gnomAD_G_NFE: 0.0794%
- gnomAD_G_SAS: 0.0414%
- Transcripts:
- GNE:ENST00000396594.8:c.51+250_51+251del:p.(=)
- Pathogenicity Data:
- Best Score: 0.848817
- REMM: 0.849
- Frequency Data:
- UK10K: 0.0397%
- gnomAD_G_AFR: 0.0216%
- gnomAD_G_AMR: 0.2484%
- gnomAD_G_NFE: 0.0808%
- gnomAD_G_SAS: 0.0414%
- Pathogenicity Data:
- Best Score: 0.89249
- REMM: 0.892
- Frequency Data:
- gnomAD_G_AFR: 0.6415%
- gnomAD_G_AMR: 0.4776%
- gnomAD_G_EAS: 0.0819%
- gnomAD_G_NFE: 0.8310%
- gnomAD_G_SAS: 0.6392%
- Transcripts:
- GNE:ENST00000396594.8:c.51+4271_51+4273del:p.(=)
- Pathogenicity Data:
- Best Score: 0.50038
- REMM: 0.500
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.456597
- REMM: 0.457
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.34944
- REMM: 0.349
- Frequency Data:
- No frequency data
- Transcripts:
- GNE:ENST00000396594.8:c.52-11989C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.226101
- REMM: 0.226
- Frequency Data:
- UK10K: 0.0529%
- gnomAD_G_AFR: 0.0340%
- gnomAD_G_AMR: 0.2642%
- gnomAD_G_NFE: 0.1048%
- gnomAD_G_SAS: 0.0419%
- Pathogenicity Data:
- Best Score: 0.00608889
- REMM: 0.006
- Frequency Data:
- UK10K: 0.1587%
- gnomAD_G_AFR: 0.0650%
- gnomAD_G_AMR: 0.4851%
- gnomAD_G_NFE: 0.1941%
- gnomAD_G_SAS: 0.0416%
- Proximity score 0.504 in interactome to CASP10 and phenotypic similarity 0.876 to Autoimmune lymphoproliferative syndrome associated with CASP10.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0010619, Fibroadenoma of the breast
- HP:0006625, Multifocal breast carcinoma - HP:0010619, Fibroadenoma of the breast
- Known diseases:
- OMIM:300635 Lymphoproliferative syndrome, X-linked, 2 - X-linked recessive
X_RECESSIVE
Exomiser Score: 0.379 (p=1.3E-1)
Phenotype Score: 0.504
Variant Score: 0.823
- Transcripts:
- XIAP:ENST00000371199.8:c.978-1240_978-1232del:p.(=)
- Pathogenicity Data:
- Best Score: 0.823288
- REMM: 0.823
- Frequency Data:
- No frequency data
X_DOMINANT
Exomiser Score: 0.043 (p=3.4E-1)
Phenotype Score: 0.252
Variant Score: 0.823
- Transcripts:
- XIAP:ENST00000371199.8:c.978-1240_978-1232del:p.(=)
- Pathogenicity Data:
- Best Score: 0.823288
- REMM: 0.823
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.626373
- REMM: 0.626
- Frequency Data:
- gnomAD_G_AFR: 0.0900%
- gnomAD_G_AMR: 0.1091%
- gnomAD_G_EAS: 0.0922%
- gnomAD_G_NFE: 0.2353%
- Pathogenicity Data:
- Best Score: 0.626373
- REMM: 0.626
- Frequency Data:
- gnomAD_G_AFR: 0.0750%
- gnomAD_G_AMR: 0.3275%
- gnomAD_G_NFE: 0.0673%
- Transcripts:
- XIAP:ENST00000371199.8::
- Pathogenicity Data:
- Best Score: 0.374089
- REMM: 0.374
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.354072
- REMM: 0.354
- Frequency Data:
- No frequency data
- Transcripts:
- XIAP:ENST00000371199.8:c.-33+4162_-33+4163insT:p.(=)
- Pathogenicity Data:
- Best Score: 0.278353
- REMM: 0.278
- Frequency Data:
- No frequency data
- Phenotypic similarity 0.326 to zebrafish mutant involving ITPR3.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - ZP:0001460, notochord deformed, abnormal
- HP:0006625, Multifocal breast carcinoma - ZP:0001460, notochord deformed, abnormal
- Proximity score 0.504 in interactome to RASGRP1 and phenotypic similarity 0.876 to Autoimmune lymphoproliferative syndrome associated with RASGRP1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0010619, Fibroadenoma of the breast
- HP:0006625, Multifocal breast carcinoma - HP:0010619, Fibroadenoma of the breast
- Proximity score 0.504 in interactome to RASGRP1 and phenotypic similarity 0.207 to mouse mutant of RASGRP1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0002145, abnormal T cell differentiation
- HP:0006625, Multifocal breast carcinoma - MP:0002145, abnormal T cell differentiation
- Known diseases:
- OMIM:222100 Diabetes, type 1, susceptibility to (susceptibility)
- OMIM:620111 Charcot-Marie-Tooth disease, demyelinating, type 1J - autosomal dominant
AUTOSOMAL_DOMINANT
Exomiser Score: 0.376 (p=1.3E-1)
Phenotype Score: 0.504
Variant Score: 0.821
- Transcripts:
- ITPR3:ENST00000605930.3:c.2929-369G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.824208
- REMM: 0.824
- Frequency Data:
- UK10K: 0.0264%
- gnomAD_G_AFR: 0.0024%
- gnomAD_G_NFE: 0.0118%
- gnomAD_G_SAS: 0.0207%
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.179 (p=2.1E-1)
Phenotype Score: 0.504
Variant Score: 0.711
- Transcripts:
- ITPR3:ENST00000605930.3:c.2929-369G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.824208
- REMM: 0.824
- Frequency Data:
- UK10K: 0.0264%
- gnomAD_G_AFR: 0.0024%
- gnomAD_G_NFE: 0.0118%
- gnomAD_G_SAS: 0.0207%
- Transcripts:
- ITPR3:ENST00000605930.3:c.290C>T:p.(Ala97Val)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- gnomAD_E_NFE: 0.0016%
- gnomAD_E_SAS: 0.0012%
- Pathogenicity Data:
- Best Score: 0.266704
- REMM: 0.267
- Frequency Data:
- No frequency data
- Transcripts:
- ITPR3:ENST00000605930.3:c.90-4360_90-4359del:p.(=)
- Pathogenicity Data:
- Best Score: 0.166683
- REMM: 0.167
- Frequency Data:
- No frequency data
- Transcripts:
- ITPR3:ENST00000605930.3:c.4053C>T:p.(=)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- gnomAD_E_AFR: 0.0060%
- gnomAD_E_NFE: 0.0092%
- gnomAD_E_SAS: 0.0580%
- gnomAD_G_AFR: 0.0024%
- gnomAD_G_NFE: 0.0044%
- gnomAD_G_SAS: 0.0414%
- Transcripts:
- ITPR3:ENST00000605930.3:c.89+1635G>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0174901
- REMM: 0.017
- Frequency Data:
- No frequency data
- Transcripts:
- ITPR3:ENST00000605930.3::
- Pathogenicity Data:
- Best Score: 0.00945159
- REMM: 0.009
- Frequency Data:
- No frequency data
- Transcripts:
- ITPR3:ENST00000605930.3::
- Pathogenicity Data:
- Best Score: 0.00937778
- REMM: 0.009
- Frequency Data:
- No frequency data
- Transcripts:
- ITPR3:ENST00000605930.3::
- Pathogenicity Data:
- Best Score: 0.0087
- REMM: 0.009
- Frequency Data:
- No frequency data
- Transcripts:
- ITPR3:ENST00000605930.3::
- Pathogenicity Data:
- Best Score: 0.00826667
- REMM: 0.008
- Frequency Data:
- No frequency data
- Transcripts:
- ITPR3:ENST00000605930.3::
- Pathogenicity Data:
- Best Score: 0.00547778
- REMM: 0.005
- Frequency Data:
- No frequency data
- Transcripts:
- ITPR3:ENST00000605930.3:c.7625-210G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.00322063
- REMM: 0.003
- Frequency Data:
- UK10K: 0.5422%
- gnomAD_G_AFR: 0.1516%
- gnomAD_G_AMR: 0.5558%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 0.7454%
- gnomAD_G_SAS: 0.4764%
- Phenotypic similarity 0.329 to mouse mutant involving BAIAP2.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0005508, abnormal skeleton morphology
- HP:0006625, Multifocal breast carcinoma - MP:0005508, abnormal skeleton morphology
- Proximity score 0.504 in interactome to WASF1 and phenotypic similarity 0.635 to Neurodevelopmental disorder with absent language and variable seizures associated with WASF1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003186, Inverted nipples
- HP:0006625, Multifocal breast carcinoma - HP:0003186, Inverted nipples
AUTOSOMAL_DOMINANT
Exomiser Score: 0.332 (p=1.4E-1)
Phenotype Score: 0.504
Variant Score: 0.800
- Transcripts:
- BAIAP2:ENST00000428708.7:c.217+7_217+8del:p.?
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- No frequency data
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.242 (p=1.8E-1)
Phenotype Score: 0.504
Variant Score: 0.752
- Transcripts:
- BAIAP2:ENST00000428708.7:c.217+7_217+8del:p.?
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- No frequency data
- Transcripts:
- BAIAP2:ENST00000428708.7:c.217+7342C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.779274
- REMM: 0.779
- Frequency Data:
- UK10K: 0.2380%
- gnomAD_G_AFR: 0.0192%
- gnomAD_G_AMR: 0.0196%
- gnomAD_G_NFE: 0.1735%
- gnomAD_G_SAS: 0.5394%
- Transcripts:
- BAIAP2:ENST00000428708.7::
- Pathogenicity Data:
- Best Score: 0.437425
- REMM: 0.437
- Frequency Data:
- No frequency data
- Transcripts:
- BAIAP2:ENST00000428708.7::
- Pathogenicity Data:
- Best Score: 0.295877
- REMM: 0.296
- Frequency Data:
- gnomAD_G_NFE: 0.0363%
- Transcripts:
- BAIAP2:ENST00000428708.7::
- Pathogenicity Data:
- Best Score: 0.270194
- REMM: 0.270
- Frequency Data:
- No frequency data
- Transcripts:
- BAIAP2:ENST00000428708.7::
- Pathogenicity Data:
- Best Score: 0.257841
- REMM: 0.258
- Frequency Data:
- No frequency data
- Transcripts:
- BAIAP2:ENST00000428708.7::
- Pathogenicity Data:
- Best Score: 0.255511
- REMM: 0.256
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.0999655
- REMM: 0.100
- Frequency Data:
- No frequency data
- Transcripts:
- BAIAP2:ENST00000428708.7:c.217+23G>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.0337766
- REMM: 0.034
- Frequency Data:
- No frequency data
- Transcripts:
- BAIAP2:ENST00000428708.7:c.55-5311_55-5310del:p.(=)
- Pathogenicity Data:
- Best Score: 0.0276452
- REMM: 0.028
- Frequency Data:
- No frequency data
- Phenotypic similarity 0.558 to Noonan syndrome associated with RAF1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0006610, Wide intermamillary distance
- HP:0006625, Multifocal breast carcinoma - HP:0006610, Wide intermamillary distance
- Phenotypic similarity 0.362 to mouse mutant involving RAF1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0010031, abnormal cranium size
- HP:0006625, Multifocal breast carcinoma - MP:0010031, abnormal cranium size
- Proximity score 0.511 in interactome to SPRY4 and phenotypic similarity 0.620 to Kallmann syndrome associated with SPRY4.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003187, Breast hypoplasia
- HP:0006625, Multifocal breast carcinoma - HP:0003187, Breast hypoplasia
- Proximity score 0.511 in interactome to SPRY4 and phenotypic similarity 0.294 to mouse mutant of SPRY4.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0000458, abnormal mandible morphology
- HP:0006625, Multifocal breast carcinoma - MP:0000458, abnormal mandible morphology
- Known diseases:
- OMIM:611553 Noonan syndrome 5 - autosomal dominant
- OMIM:611554 LEOPARD syndrome 2 - autosomal dominant
- OMIM:615916 Cardiomyopathy, dilated, 1NN - autosomal dominant
- ORPHA:154 Familial isolated dilated cardiomyopathy - autosomal dominant
- ORPHA:500 Noonan syndrome with multiple lentigines - autosomal dominant
- ORPHA:626 Large congenital melanocytic nevus (unconfirmed)
- ORPHA:648 Noonan syndrome - autosomal dominant
AUTOSOMAL_DOMINANT
Exomiser Score: 0.332 (p=1.4E-1)
Phenotype Score: 0.558
Variant Score: 0.739
- Phenotype matches to diseases consistent with this MOI:
- Phenotypic similarity 0.558 to ORPHA:648 Noonan syndrome
- Phenotypic similarity 0.484 to OMIM:611554 LEOPARD syndrome 2
- Phenotypic similarity 0.484 to OMIM:611553 Noonan syndrome 5
- Phenotypic similarity 0.448 to ORPHA:500 Noonan syndrome with multiple lentigines
- Pathogenicity Data:
- Best Score: 0.738505
- REMM: 0.739
- Frequency Data:
- No frequency data
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.021 (p=4.0E-1)
Phenotype Score: 0.255
Variant Score: 0.739
- Pathogenicity Data:
- Best Score: 0.738505
- REMM: 0.739
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.738505
- REMM: 0.739
- Frequency Data:
- No frequency data
- Transcripts:
- RAF1:ENST00000251849.9:c.-27+1471_-27+1474del:p.(=)
- Pathogenicity Data:
- Best Score: 0.725896
- REMM: 0.726
- Frequency Data:
- No frequency data
- Transcripts:
- RAF1:ENST00000251849.9:c.-27+1465_-27+1474del:p.(=)
- Pathogenicity Data:
- Best Score: 0.725896
- REMM: 0.726
- Frequency Data:
- No frequency data
- Transcripts:
- RAF1:ENST00000251849.9:c.1108+962_1108+965del:p.(=)
- Pathogenicity Data:
- Best Score: 0.417208
- REMM: 0.417
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.419986
- REMM: 0.420
- Frequency Data:
- gnomAD_G_AFR: 0.9050%
- gnomAD_G_AMR: 1.6805%
- gnomAD_G_NFE: 1.9038%
- gnomAD_G_SAS: 0.6849%
- Transcripts:
- RAF1:ENST00000251849.9:c.1941C>T:p.(=)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- UK10K: 1.2166%
- gnomAD_E_AFR: 0.1016%
- gnomAD_E_AMR: 0.4450%
- gnomAD_E_EAS: 0.0025%
- gnomAD_E_NFE: 1.1495%
- gnomAD_E_SAS: 0.1797%
- gnomAD_G_AFR: 0.1780%
- gnomAD_G_AMR: 1.0137%
- gnomAD_G_NFE: 1.0318%
- gnomAD_G_SAS: 0.1863%
- Phenotypic similarity 0.504 to Infantile myofibromatosis associated with PDGFRB.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0000765, Abnormal thorax morphology
- HP:0006625, Multifocal breast carcinoma - HP:0000765, Abnormal thorax morphology
- Phenotypic similarity 0.321 to mouse mutant involving PDGFRB.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0002639, micrognathia
- HP:0006625, Multifocal breast carcinoma - MP:0002639, micrognathia
- Proximity score 0.503 in interactome to FGF17 and phenotypic similarity 0.620 to Kallmann syndrome associated with FGF17.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003187, Breast hypoplasia
- HP:0006625, Multifocal breast carcinoma - HP:0003187, Breast hypoplasia
- Known diseases:
- OMIM:131440 Myeloproliferative disorder with eosinophilia (CNV)
- OMIM:228550 Myofibromatosis, infantile, 1 - autosomal dominant
- OMIM:601812 Premature aging syndrome, Penttinen type - autosomal dominant
- OMIM:615007 Basal ganglia calcification, idiopathic, 4 - autosomal dominant
- OMIM:616592 Kosaki overgrowth syndrome - autosomal dominant
- ORPHA:1980 Bilateral striopallidodentate calcinosis - autosomal dominant
- ORPHA:2591 Infantile myofibromatosis - autosomal dominant
AUTOSOMAL_DOMINANT
Exomiser Score: 0.331 (p=1.4E-1)
Phenotype Score: 0.504
Variant Score: 0.799
- Phenotype matches to diseases consistent with this MOI:
- Phenotypic similarity 0.504 to ORPHA:2591 Infantile myofibromatosis
- Phenotypic similarity 0.432 to OMIM:601812 Premature aging syndrome, Penttinen type
- Transcripts:
- PDGFRB:ENST00000261799.9:c.2023+6G>A:p.?
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- gnomAD_E_NFE: 0.0029%
- gnomAD_E_SAS: 0.0012%
- gnomAD_G_NFE: 0.0059%
- Proximity score 0.502 in interactome to NR5A1 and phenotypic similarity 0.676 to 46,XX gonadal dysgenesis associated with NR5A1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0010311, Aplasia/Hypoplasia of the breasts
- HP:0006625, Multifocal breast carcinoma - HP:0010311, Aplasia/Hypoplasia of the breasts
- Known diseases:
- OMIM:608565 Deafness, autosomal recessive 35 - autosomal recessive
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.331 (p=1.4E-1)
Phenotype Score: 0.502
Variant Score: 0.802
- Transcripts:
- ESRRB:ENST00000644823.1:c.50+2984C>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.97491
- REMM: 0.975
- Frequency Data:
- No frequency data
- Transcripts:
- ESRRB:ENST00000644823.1:c.*1546C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.647273
- REMM: 0.647
- Frequency Data:
- UK10K: 0.0397%
- gnomAD_E_AFR: 0.0122%
- gnomAD_E_AMR: 0.1356%
- gnomAD_E_NFE: 0.1062%
- gnomAD_E_SAS: 0.0284%
- gnomAD_G_AFR: 0.0241%
- gnomAD_G_AMR: 0.1895%
- gnomAD_G_NFE: 0.1205%
- gnomAD_G_SAS: 0.0415%
AUTOSOMAL_DOMINANT
Exomiser Score: 0.151 (p=2.3E-1)
Phenotype Score: 0.251
Variant Score: 0.975
- Transcripts:
- ESRRB:ENST00000644823.1:c.50+2984C>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.97491
- REMM: 0.975
- Frequency Data:
- No frequency data
- Transcripts:
- ESRRB:ENST00000644823.1:c.851-1591G>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.688073
- REMM: 0.688
- Frequency Data:
- UK10K: 0.9521%
- gnomAD_G_AFR: 0.1710%
- gnomAD_G_AMR: 0.8626%
- gnomAD_G_EAS: 0.3480%
- gnomAD_G_NFE: 0.8907%
- gnomAD_G_SAS: 0.3730%
- Transcripts:
- ESRRB:ENST00000644823.1:c.51-9025G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.883985
- REMM: 0.884
- Frequency Data:
- UK10K: 1.5208%
- gnomAD_G_AFR: 0.2913%
- gnomAD_G_AMR: 1.4654%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 1.5095%
- gnomAD_G_SAS: 1.1628%
- Pathogenicity Data:
- Best Score: 0.858179
- REMM: 0.858
- Frequency Data:
- UK10K: 1.5208%
- gnomAD_G_AFR: 0.2890%
- gnomAD_G_AMR: 1.4581%
- gnomAD_G_EAS: 0.0194%
- gnomAD_G_NFE: 1.5146%
- gnomAD_G_SAS: 1.1662%
- Transcripts:
- ESRRB:ENST00000644823.1:c.461-5714G>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.815222
- REMM: 0.815
- Frequency Data:
- UK10K: 1.4282%
- gnomAD_G_AFR: 0.2935%
- gnomAD_G_AMR: 1.4646%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 1.4760%
- gnomAD_G_SAS: 0.5595%
- Pathogenicity Data:
- Best Score: 0.44157
- REMM: 0.442
- Frequency Data:
- No frequency data
- Transcripts:
- ESRRB:ENST00000644823.1:c.51-25287G>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.432786
- REMM: 0.433
- Frequency Data:
- No frequency data
- Transcripts:
- ESRRB:ENST00000644823.1:c.51-26842G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.863378
- REMM: 0.863
- Frequency Data:
- UK10K: 1.5472%
- gnomAD_G_AFR: 0.2963%
- gnomAD_G_AMR: 1.4664%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 1.5532%
- gnomAD_G_SAS: 1.1628%
- Transcripts:
- ESRRB:ENST00000644823.1:c.461-9268A>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.77773
- REMM: 0.778
- Frequency Data:
- UK10K: 1.4282%
- gnomAD_G_AFR: 0.2934%
- gnomAD_G_AMR: 1.4698%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 1.4771%
- gnomAD_G_SAS: 0.5592%
- Transcripts:
- ESRRB:ENST00000644823.1:c.577+5730_577+5731del:p.(=)
- Pathogenicity Data:
- Best Score: 0.772858
- REMM: 0.773
- Frequency Data:
- UK10K: 1.4811%
- gnomAD_G_AFR: 0.9852%
- gnomAD_G_AMR: 1.1955%
- gnomAD_G_EAS: 0.1815%
- gnomAD_G_NFE: 1.4322%
- gnomAD_G_SAS: 0.3046%
- Pathogenicity Data:
- Best Score: 0.776869
- REMM: 0.777
- Frequency Data:
- UK10K: 0.8728%
- gnomAD_G_AFR: 0.2888%
- gnomAD_G_AMR: 1.4332%
- gnomAD_G_EAS: 0.0387%
- gnomAD_G_NFE: 1.5177%
- gnomAD_G_SAS: 1.2251%
- Transcripts:
- ESRRB:ENST00000644823.1:c.51-5189_51-5188insT:p.(=)
- Pathogenicity Data:
- Best Score: 0.7128
- REMM: 0.713
- Frequency Data:
- UK10K: 1.5075%
- gnomAD_G_AFR: 0.2918%
- gnomAD_G_AMR: 1.4669%
- gnomAD_G_EAS: 0.0195%
- gnomAD_G_NFE: 1.5106%
- gnomAD_G_SAS: 1.2276%
- Transcripts:
- ESRRB:ENST00000644823.1:c.461-3360G>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.699835
- REMM: 0.700
- Frequency Data:
- UK10K: 1.4811%
- gnomAD_G_AFR: 0.2960%
- gnomAD_G_AMR: 1.4775%
- gnomAD_G_EAS: 0.0387%
- gnomAD_G_NFE: 1.5114%
- gnomAD_G_SAS: 1.2635%
- Transcripts:
- ESRRB:ENST00000644823.1:c.51-14540A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.521429
- REMM: 0.521
- Frequency Data:
- UK10K: 1.1902%
- gnomAD_G_AFR: 0.2503%
- gnomAD_G_AMR: 1.1636%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 1.1895%
- gnomAD_G_SAS: 0.4155%
- Pathogenicity Data:
- Best Score: 0.635535
- REMM: 0.636
- Frequency Data:
- gnomAD_G_AFR: 0.2863%
- gnomAD_G_AMR: 1.1739%
- gnomAD_G_EAS: 1.4370%
- gnomAD_G_NFE: 1.3209%
- gnomAD_G_SAS: 0.5742%
- Transcripts:
- ESRRB:ENST00000644823.1:c.51-19404G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.69363
- REMM: 0.694
- Frequency Data:
- UK10K: 1.5340%
- gnomAD_G_AFR: 0.2915%
- gnomAD_G_AMR: 1.4725%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 1.5163%
- gnomAD_G_SAS: 1.1401%
- Transcripts:
- ESRRB:ENST00000644823.1:c.51-14266C>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.684427
- REMM: 0.684
- Frequency Data:
- UK10K: 1.5340%
- gnomAD_G_AFR: 0.2938%
- gnomAD_G_AMR: 1.4731%
- gnomAD_G_EAS: 0.0194%
- gnomAD_G_NFE: 1.5073%
- gnomAD_G_SAS: 1.1657%
- Transcripts:
- ESRRB:ENST00000644823.1:c.51-25178del:p.(=)
- Pathogenicity Data:
- Best Score: 0.344229
- REMM: 0.344
- Frequency Data:
- No frequency data
- Transcripts:
- ESRRB:ENST00000644823.1:c.51-10052G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.633095
- REMM: 0.633
- Frequency Data:
- UK10K: 1.5340%
- gnomAD_G_AFR: 0.2936%
- gnomAD_G_AMR: 1.4721%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 1.5086%
- gnomAD_G_SAS: 1.1628%
- Transcripts:
- ESRRB:ENST00000644823.1:c.51-3197G>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.587347
- REMM: 0.587
- Frequency Data:
- UK10K: 1.4150%
- gnomAD_G_AFR: 0.2861%
- gnomAD_G_AMR: 1.4506%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 1.4800%
- gnomAD_G_SAS: 0.5390%
- Transcripts:
- ESRRB:ENST00000644823.1:c.51-21396_51-21395del:p.(=)
- Pathogenicity Data:
- Best Score: 0.712492
- REMM: 0.712
- Frequency Data:
- gnomAD_G_AFR: 0.6687%
- gnomAD_G_AMR: 1.4541%
- gnomAD_G_EAS: 0.0363%
- gnomAD_G_NFE: 1.6372%
- gnomAD_G_SAS: 1.4079%
- Pathogenicity Data:
- Best Score: 0.45651
- REMM: 0.457
- Frequency Data:
- gnomAD_G_AFR: 0.3481%
- gnomAD_G_AMR: 0.9596%
- gnomAD_G_EAS: 0.0299%
- gnomAD_G_NFE: 1.2966%
- gnomAD_G_SAS: 0.5810%
- Transcripts:
- ESRRB:ENST00000644823.1:c.577+3962A>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.522219
- REMM: 0.522
- Frequency Data:
- UK10K: 1.4546%
- gnomAD_G_AFR: 0.2888%
- gnomAD_G_AMR: 1.3597%
- gnomAD_G_EAS: 0.1935%
- gnomAD_G_NFE: 1.4364%
- gnomAD_G_SAS: 0.6424%
- Transcripts:
- ESRRB:ENST00000644823.1:c.51-8009_51-8007del:p.(=)
- Pathogenicity Data:
- Best Score: 0.552069
- REMM: 0.552
- Frequency Data:
- UK10K: 1.5340%
- gnomAD_G_AFR: 0.2887%
- gnomAD_G_AMR: 1.4725%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 1.5099%
- gnomAD_G_SAS: 1.1821%
- Transcripts:
- ESRRB:ENST00000644823.1:c.460+10982A>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.513211
- REMM: 0.513
- Frequency Data:
- UK10K: 1.4414%
- gnomAD_G_AFR: 0.2938%
- gnomAD_G_AMR: 1.4517%
- gnomAD_G_EAS: 0.0194%
- gnomAD_G_NFE: 1.4840%
- gnomAD_G_SAS: 0.5611%
- Transcripts:
- ESRRB:ENST00000644823.1:c.577+2792G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.502127
- REMM: 0.502
- Frequency Data:
- UK10K: 1.4943%
- gnomAD_G_AFR: 0.2936%
- gnomAD_G_AMR: 1.3793%
- gnomAD_G_EAS: 0.1349%
- gnomAD_G_NFE: 1.4704%
- gnomAD_G_SAS: 1.3071%
- Transcripts:
- ESRRB:ENST00000644823.1:c.460+5393A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.531312
- REMM: 0.531
- Frequency Data:
- gnomAD_G_AFR: 0.2966%
- gnomAD_G_AMR: 1.4450%
- gnomAD_G_NFE: 1.5504%
- gnomAD_G_SAS: 1.3527%
- Transcripts:
- ESRRB:ENST00000644823.1:c.851-3057C>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.482887
- REMM: 0.483
- Frequency Data:
- UK10K: 1.3753%
- gnomAD_G_AFR: 0.2647%
- gnomAD_G_AMR: 1.1707%
- gnomAD_G_EAS: 1.5269%
- gnomAD_G_NFE: 1.2937%
- gnomAD_G_SAS: 0.4977%
- Transcripts:
- ESRRB:ENST00000644823.1:c.577+1116A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.461312
- REMM: 0.461
- Frequency Data:
- UK10K: 1.4943%
- gnomAD_G_AFR: 0.2941%
- gnomAD_G_AMR: 1.3885%
- gnomAD_G_EAS: 0.1545%
- gnomAD_G_NFE: 1.4765%
- gnomAD_G_SAS: 1.3076%
- Transcripts:
- ESRRB:ENST00000644823.1:c.51-24066T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.313565
- REMM: 0.314
- Frequency Data:
- UK10K: 1.1637%
- gnomAD_G_AFR: 0.2502%
- gnomAD_G_AMR: 1.1629%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 1.1936%
- gnomAD_G_SAS: 0.3937%
- Transcripts:
- ESRRB:ENST00000644823.1:c.51-27891del:p.(=)
- Pathogenicity Data:
- Best Score: 0.382452
- REMM: 0.382
- Frequency Data:
- gnomAD_G_AFR: 0.3109%
- gnomAD_G_AMR: 1.5042%
- gnomAD_G_EAS: 0.0197%
- gnomAD_G_NFE: 1.5791%
- gnomAD_G_SAS: 1.1792%
- Transcripts:
- ESRRB:ENST00000644823.1:c.51-18753_51-18746del:p.(=)
- Pathogenicity Data:
- Best Score: 0.267213
- REMM: 0.267
- Frequency Data:
- gnomAD_G_AFR: 0.2675%
- gnomAD_G_AMR: 1.2589%
- gnomAD_G_EAS: 0.0194%
- gnomAD_G_NFE: 1.3003%
- gnomAD_G_SAS: 0.5059%
- Transcripts:
- ESRRB:ENST00000644823.1:c.51-23719T>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.33094
- REMM: 0.331
- Frequency Data:
- UK10K: 1.5340%
- gnomAD_G_AFR: 0.2935%
- gnomAD_G_AMR: 1.4641%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 1.5172%
- gnomAD_G_SAS: 1.1628%
- Transcripts:
- ESRRB:ENST00000644823.1:c.51-3633G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.312219
- REMM: 0.312
- Frequency Data:
- UK10K: 1.4811%
- gnomAD_G_AFR: 0.2885%
- gnomAD_G_AMR: 1.4571%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 1.5126%
- gnomAD_G_SAS: 1.2023%
- Transcripts:
- ESRRB:ENST00000644823.1:c.461-1255C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.305765
- REMM: 0.306
- Frequency Data:
- UK10K: 1.4811%
- gnomAD_G_AFR: 0.2960%
- gnomAD_G_AMR: 1.4852%
- gnomAD_G_EAS: 0.0386%
- gnomAD_G_NFE: 1.5102%
- gnomAD_G_SAS: 1.2656%
- Pathogenicity Data:
- Best Score: 0.291823
- REMM: 0.292
- Frequency Data:
- gnomAD_G_AFR: 0.2908%
- gnomAD_G_AMR: 1.0886%
- gnomAD_G_EAS: 0.0221%
- gnomAD_G_NFE: 1.4802%
- gnomAD_G_SAS: 0.4204%
- Transcripts:
- ESRRB:ENST00000644823.1:c.51-762G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.251437
- REMM: 0.251
- Frequency Data:
- UK10K: 1.4679%
- gnomAD_G_AFR: 0.2872%
- gnomAD_G_AMR: 1.4496%
- gnomAD_G_EAS: 0.0389%
- gnomAD_G_NFE: 1.5140%
- gnomAD_G_SAS: 1.2960%
- Transcripts:
- ESRRB:ENST00000644823.1::
- Pathogenicity Data:
- Best Score: 0.289909
- REMM: 0.290
- Frequency Data:
- gnomAD_G_AFR: 1.1108%
- gnomAD_G_AMR: 1.5425%
- gnomAD_G_EAS: 1.2131%
- gnomAD_G_NFE: 1.9688%
- gnomAD_G_SAS: 1.9008%
- Transcripts:
- ESRRB:ENST00000644823.1:c.1120+1213G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0282123
- REMM: 0.028
- Frequency Data:
- No frequency data
- Transcripts:
- ESRRB:ENST00000644823.1:c.51-16532A>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.0537024
- REMM: 0.054
- Frequency Data:
- UK10K: 1.4414%
- gnomAD_G_AFR: 0.2910%
- gnomAD_G_AMR: 1.4644%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 1.5124%
- gnomAD_G_SAS: 1.1811%
- Pathogenicity Data:
- Best Score: 0.0261456
- REMM: 0.026
- Frequency Data:
- gnomAD_G_AFR: 0.6724%
- gnomAD_G_AMR: 0.6598%
- gnomAD_G_EAS: 0.2929%
- gnomAD_G_NFE: 1.4120%
- gnomAD_G_SAS: 0.1988%
- Pathogenicity Data:
- Best Score: 0.0230607
- REMM: 0.023
- Frequency Data:
- gnomAD_G_AFR: 0.4609%
- gnomAD_G_AMR: 1.4622%
- gnomAD_G_EAS: 0.0534%
- gnomAD_G_NFE: 1.5827%
- gnomAD_G_SAS: 1.4357%
- Pathogenicity Data:
- Best Score: 0.0263063
- REMM: 0.026
- Frequency Data:
- gnomAD_G_AFR: 0.6059%
- gnomAD_G_AMR: 1.9548%
- gnomAD_G_EAS: 0.0691%
- gnomAD_G_NFE: 1.9757%
- gnomAD_G_SAS: 1.7388%
- Transcripts:
- ESRRB:ENST00000644823.1::
- Pathogenicity Data:
- Best Score: 0.00276786
- REMM: 0.003
- Frequency Data:
- No frequency data
- Transcripts:
- ESRRB:ENST00000644823.1:c.51-7467C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.00403333
- REMM: 0.004
- Frequency Data:
- UK10K: 1.5340%
- gnomAD_G_AFR: 0.2912%
- gnomAD_G_AMR: 1.4700%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 1.5082%
- gnomAD_G_SAS: 1.2038%
- Pathogenicity Data:
- Best Score: 0.002
- REMM: 0.002
- Frequency Data:
- No frequency data
- Transcripts:
- ESRRB:ENST00000644823.1:c.51-16536C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.00324286
- REMM: 0.003
- Frequency Data:
- UK10K: 1.4414%
- gnomAD_G_AFR: 0.2935%
- gnomAD_G_AMR: 1.4654%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 1.5141%
- gnomAD_G_SAS: 1.1816%
- Transcripts:
- ESRRB:ENST00000644823.1:c.51-6076G>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.00233333
- REMM: 0.002
- Frequency Data:
- UK10K: 1.4943%
- gnomAD_G_AFR: 0.2912%
- gnomAD_G_AMR: 1.4652%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 1.5082%
- gnomAD_G_SAS: 1.1998%
- Transcripts:
- ESRRB:ENST00000644823.1:c.461-467C>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.00205556
- REMM: 0.002
- Frequency Data:
- UK10K: 1.4546%
- gnomAD_G_AFR: 0.2671%
- gnomAD_G_AMR: 1.3722%
- gnomAD_G_EAS: 0.0386%
- gnomAD_G_NFE: 1.4232%
- gnomAD_G_SAS: 1.2842%
- Transcripts:
- ESRRB:ENST00000644823.1:c.51-17170G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.00168333
- REMM: 0.002
- Frequency Data:
- gnomAD_G_AFR: 0.3022%
- gnomAD_G_AMR: 1.4150%
- gnomAD_G_EAS: 0.0194%
- gnomAD_G_NFE: 1.5069%
- gnomAD_G_SAS: 1.1326%
- Transcripts:
- ESRRB:ENST00000644823.1:c.51-30024C>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0015
- REMM: 0.002
- Frequency Data:
- UK10K: 1.5869%
- gnomAD_G_AFR: 0.2989%
- gnomAD_G_AMR: 1.4731%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 1.5531%
- gnomAD_G_SAS: 1.1860%
- Transcripts:
- ESRRB:ENST00000644823.1:c.51-15443G>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.00120833
- REMM: 0.001
- Frequency Data:
- UK10K: 1.5075%
- gnomAD_G_AFR: 0.3443%
- gnomAD_G_AMR: 1.4531%
- gnomAD_G_EAS: 0.0194%
- gnomAD_G_NFE: 1.5102%
- gnomAD_G_SAS: 1.1672%
- Transcripts:
- ESRRB:ENST00000644823.1:c.51-10194C>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.001
- REMM: 0.001
- Frequency Data:
- UK10K: 1.5340%
- gnomAD_G_AFR: 0.2938%
- gnomAD_G_AMR: 1.4650%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 1.5099%
- gnomAD_G_SAS: 1.1652%
- Transcripts:
- ESRRB:ENST00000644823.1::
- Pathogenicity Data:
- Best Score: 5.0E-4
- REMM: 0.001
- Frequency Data:
- No frequency data
- Transcripts:
- ESRRB:ENST00000644823.1:c.50+14717G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- UK10K: 0.0397%
- gnomAD_G_AFR: 0.0457%
- gnomAD_G_AMR: 0.2679%
- gnomAD_G_NFE: 0.1088%
- gnomAD_G_SAS: 0.1451%
- Transcripts:
- ESRRB:ENST00000644823.1:c.50+30531C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- UK10K: 1.5075%
- gnomAD_G_AFR: 0.2957%
- gnomAD_G_AMR: 1.4510%
- gnomAD_G_EAS: 0.0578%
- gnomAD_G_NFE: 1.5095%
- gnomAD_G_SAS: 0.5174%
- Transcripts:
- ESRRB:ENST00000644823.1:c.51-28555T>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- UK10K: 1.5604%
- gnomAD_G_AFR: 0.2940%
- gnomAD_G_AMR: 1.4531%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 1.5542%
- gnomAD_G_SAS: 1.2053%
- Transcripts:
- ESRRB:ENST00000644823.1:c.51-28265G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- UK10K: 1.5604%
- gnomAD_G_AFR: 0.3044%
- gnomAD_G_AMR: 1.4710%
- gnomAD_G_EAS: 0.0198%
- gnomAD_G_NFE: 1.5558%
- gnomAD_G_SAS: 1.2020%
- Transcripts:
- ESRRB:ENST00000644823.1:c.51-27166C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- UK10K: 1.5604%
- gnomAD_G_AFR: 0.9075%
- gnomAD_G_AMR: 1.5039%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 1.5510%
- gnomAD_G_SAS: 1.1628%
- Transcripts:
- ESRRB:ENST00000644823.1:c.51-23788A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- UK10K: 1.5340%
- gnomAD_G_AFR: 0.2887%
- gnomAD_G_AMR: 1.4594%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 1.5139%
- gnomAD_G_SAS: 1.1821%
- Transcripts:
- ESRRB:ENST00000644823.1:c.51-20322del:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- gnomAD_G_AFR: 0.7581%
- gnomAD_G_AMR: 1.7181%
- gnomAD_G_EAS: 0.1444%
- gnomAD_G_NFE: 1.6954%
- gnomAD_G_SAS: 1.9101%
- Transcripts:
- ESRRB:ENST00000644823.1:c.51-16795T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- UK10K: 1.5340%
- gnomAD_G_AFR: 0.2985%
- gnomAD_G_AMR: 1.4721%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 1.5159%
- gnomAD_G_SAS: 1.1836%
- Transcripts:
- ESRRB:ENST00000644823.1:c.51-16776T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- UK10K: 1.5208%
- gnomAD_G_AFR: 0.2960%
- gnomAD_G_AMR: 1.4717%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 1.5158%
- gnomAD_G_SAS: 1.1826%
- Transcripts:
- ESRRB:ENST00000644823.1:c.51-16283A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- UK10K: 1.5340%
- gnomAD_G_AFR: 0.2963%
- gnomAD_G_AMR: 1.4729%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 1.5113%
- gnomAD_G_SAS: 1.2028%
- Transcripts:
- ESRRB:ENST00000644823.1:c.51-16235T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- gnomAD_G_AFR: 0.2913%
- gnomAD_G_AMR: 1.4808%
- gnomAD_G_EAS: 0.0198%
- gnomAD_G_NFE: 1.5263%
- gnomAD_G_SAS: 1.2253%
- Transcripts:
- ESRRB:ENST00000644823.1:c.51-16136T>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- UK10K: 1.5208%
- gnomAD_G_AFR: 0.2990%
- gnomAD_G_AMR: 1.4348%
- gnomAD_G_EAS: 0.0205%
- gnomAD_G_NFE: 1.5119%
- gnomAD_G_SAS: 1.1191%
- Transcripts:
- ESRRB:ENST00000644823.1:c.51-16085A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- UK10K: 1.5340%
- gnomAD_G_AFR: 0.3071%
- gnomAD_G_AMR: 1.5575%
- gnomAD_G_EAS: 0.0202%
- gnomAD_G_NFE: 1.5191%
- gnomAD_G_SAS: 1.1945%
- Transcripts:
- ESRRB:ENST00000644823.1:c.51-15823T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- UK10K: 1.5340%
- gnomAD_G_AFR: 0.2936%
- gnomAD_G_AMR: 1.4642%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 1.5115%
- gnomAD_G_SAS: 1.1826%
- Transcripts:
- ESRRB:ENST00000644823.1:c.51-15300T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- UK10K: 1.5340%
- gnomAD_G_AFR: 0.2958%
- gnomAD_G_AMR: 1.4702%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 1.5071%
- gnomAD_G_SAS: 1.1840%
- Transcripts:
- ESRRB:ENST00000644823.1:c.51-15159G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- UK10K: 1.5604%
- gnomAD_G_AFR: 1.5019%
- gnomAD_G_AMR: 1.5891%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 1.5453%
- gnomAD_G_SAS: 1.1816%
- Transcripts:
- ESRRB:ENST00000644823.1:c.51-14448C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- UK10K: 1.5340%
- gnomAD_G_AFR: 0.2961%
- gnomAD_G_AMR: 1.4715%
- gnomAD_G_EAS: 0.0194%
- gnomAD_G_NFE: 1.5132%
- gnomAD_G_SAS: 1.1840%
- Transcripts:
- ESRRB:ENST00000644823.1:c.51-5314C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- UK10K: 1.5208%
- gnomAD_G_AFR: 0.2925%
- gnomAD_G_AMR: 1.5094%
- gnomAD_G_EAS: 0.0199%
- gnomAD_G_NFE: 1.5104%
- gnomAD_G_SAS: 1.2257%
- Transcripts:
- ESRRB:ENST00000644823.1:c.51-2164C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- UK10K: 1.4811%
- gnomAD_G_AFR: 0.2916%
- gnomAD_G_AMR: 1.4664%
- gnomAD_G_EAS: 0.0194%
- gnomAD_G_NFE: 1.5164%
- gnomAD_G_SAS: 1.2297%
- Transcripts:
- ESRRB:ENST00000644823.1:c.460+5589C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- UK10K: 1.4282%
- gnomAD_G_AFR: 0.2883%
- gnomAD_G_AMR: 1.4423%
- gnomAD_G_EAS: 0.0389%
- gnomAD_G_NFE: 1.5051%
- gnomAD_G_SAS: 1.3842%
- Transcripts:
- ESRRB:ENST00000644823.1:c.460+8469G>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- UK10K: 1.4943%
- gnomAD_G_AFR: 0.3047%
- gnomAD_G_AMR: 1.4530%
- gnomAD_G_EAS: 0.0388%
- gnomAD_G_NFE: 1.5065%
- gnomAD_G_SAS: 1.2687%
- Transcripts:
- ESRRB:ENST00000644823.1:c.461-6435G>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- UK10K: 1.4150%
- gnomAD_G_AFR: 0.2925%
- gnomAD_G_AMR: 1.4580%
- gnomAD_G_EAS: 0.0195%
- gnomAD_G_NFE: 1.4795%
- gnomAD_G_SAS: 0.5632%
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- gnomAD_G_AFR: 0.3210%
- gnomAD_G_AMR: 0.8124%
- gnomAD_G_EAS: 0.1098%
- gnomAD_G_NFE: 1.3736%
- gnomAD_G_SAS: 0.7213%
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- gnomAD_G_AFR: 0.3456%
- gnomAD_G_AMR: 1.4692%
- gnomAD_G_EAS: 0.0389%
- gnomAD_G_NFE: 1.5231%
- gnomAD_G_SAS: 1.2793%
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- gnomAD_G_AFR: 0.2801%
- gnomAD_G_AMR: 1.1706%
- gnomAD_G_EAS: 0.1602%
- gnomAD_G_NFE: 1.4307%
- gnomAD_G_SAS: 1.2212%
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- UK10K: 1.4546%
- gnomAD_G_AFR: 0.3031%
- gnomAD_G_AMR: 1.3752%
- gnomAD_G_EAS: 0.1764%
- gnomAD_G_NFE: 1.4607%
- gnomAD_G_SAS: 0.6820%
- Transcripts:
- ESRRB:ENST00000644823.1:c.578-9665C>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- gnomAD_G_EAS: 0.0966%
- gnomAD_G_SAS: 0.0414%
- Transcripts:
- ESRRB:ENST00000644823.1:c.578-4159G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- UK10K: 1.4546%
- gnomAD_G_AFR: 0.2983%
- gnomAD_G_AMR: 1.3266%
- gnomAD_G_EAS: 0.2319%
- gnomAD_G_NFE: 1.3832%
- gnomAD_G_SAS: 0.5396%
- Transcripts:
- ESRRB:ENST00000644823.1::
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- No frequency data
- Transcripts:
- ESRRB:ENST00000644823.1::
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- UK10K: 1.6530%
- gnomAD_G_AFR: 0.5822%
- gnomAD_G_AMR: 1.6540%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 1.5455%
- gnomAD_G_SAS: 0.5394%
- Proximity score 0.503 in interactome to CASP10 and phenotypic similarity 0.876 to Autoimmune lymphoproliferative syndrome associated with CASP10.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0010619, Fibroadenoma of the breast
- HP:0006625, Multifocal breast carcinoma - HP:0010619, Fibroadenoma of the breast
AUTOSOMAL_DOMINANT
Exomiser Score: 0.329 (p=1.5E-1)
Phenotype Score: 0.503
Variant Score: 0.800
- Transcripts:
- SLU7:ENST00000297151.9:c.571-5_571-4insTTTTT:p.?
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- No frequency data
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.158 (p=2.2E-1)
Phenotype Score: 0.503
Variant Score: 0.695
- Transcripts:
- SLU7:ENST00000297151.9:c.571-5_571-4insTTTTT:p.?
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- No frequency data
- Transcripts:
- SLU7:ENST00000297151.9:c.1502A>C:p.(Lys501Thr)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- gnomAD_E_EAS: 0.0731%
- gnomAD_E_NFE: 0.0034%
- gnomAD_E_SAS: 0.0139%
- gnomAD_G_EAS: 0.1156%
- gnomAD_G_NFE: 0.0074%
- gnomAD_G_SAS: 0.0207%
- Phenotypic similarity 0.444 to Nail-patella syndrome associated with LMX1B.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0000767, Pectus excavatum
- HP:0006625, Multifocal breast carcinoma - HP:0000767, Pectus excavatum
- Phenotypic similarity 0.312 to mouse mutant involving LMX1B.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0000077, abnormal interparietal bone morphology
- HP:0006625, Multifocal breast carcinoma - MP:0000077, abnormal interparietal bone morphology
- Proximity score 0.505 in interactome to OTX2 and phenotypic similarity 0.676 to Combined pituitary hormone deficiencies, genetic forms associated with OTX2.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0010311, Aplasia/Hypoplasia of the breasts
- HP:0006625, Multifocal breast carcinoma - HP:0010311, Aplasia/Hypoplasia of the breasts
- Proximity score 0.505 in interactome to OTX2 and phenotypic similarity 0.338 to mouse mutant of OTX2.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0000438, abnormal cranium morphology
- HP:0006625, Multifocal breast carcinoma - MP:0000438, abnormal cranium morphology
- Proximity score 0.505 in interactome to OTX2 and phenotypic similarity 0.244 to fish mutant of OTX2.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - ZP:0007773, mandibular arch skeleton shortened, abnormal
- HP:0006625, Multifocal breast carcinoma - ZP:0007773, mandibular arch skeleton shortened, abnormal
- Known diseases:
- OMIM:161200 Nail-patella syndrome - autosomal dominant
- OMIM:256020 Focal segmental glomerulosclerosis 10 - autosomal recessive
- ORPHA:2613 Nail-patella-like renal disease - autosomal recessive
- ORPHA:2614 Nail-patella syndrome - autosomal dominant
AUTOSOMAL_DOMINANT
Exomiser Score: 0.325 (p=1.5E-1)
Phenotype Score: 0.505
Variant Score: 0.796
- Phenotype matches to diseases consistent with this MOI:
- Phenotypic similarity 0.444 to ORPHA:2614 Nail-patella syndrome
- Phenotypic similarity 0.422 to OMIM:161200 Nail-patella syndrome
- Transcripts:
- LMX1B:ENST00000373474.9:c.560-447G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.795923
- REMM: 0.796
- Frequency Data:
- No frequency data
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.301 (p=1.6E-1)
Phenotype Score: 0.505
Variant Score: 0.784
- Transcripts:
- LMX1B:ENST00000373474.9:c.560-447G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.795923
- REMM: 0.796
- Frequency Data:
- No frequency data
- Transcripts:
- LMX1B:ENST00000373474.9:c.326+28468G>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.78226
- REMM: 0.782
- Frequency Data:
- gnomAD_G_AFR: 0.0072%
- gnomAD_G_AMR: 0.0065%
- gnomAD_G_NFE: 0.0970%
- gnomAD_G_SAS: 0.0414%
- Transcripts:
- LMX1B:ENST00000373474.9:c.326+10395C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.646536
- REMM: 0.647
- Frequency Data:
- gnomAD_G_AFR: 0.0096%
- gnomAD_G_AMR: 0.0392%
- gnomAD_G_NFE: 0.1441%
- gnomAD_G_SAS: 0.0829%
- Pathogenicity Data:
- Best Score: 0.49045
- REMM: 0.490
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.49045
- REMM: 0.490
- Frequency Data:
- No frequency data
- Transcripts:
- LMX1B:ENST00000373474.9:c.327-20317G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.818692
- REMM: 0.819
- Frequency Data:
- UK10K: 1.3885%
- gnomAD_G_AFR: 0.2430%
- gnomAD_G_AMR: 0.8166%
- gnomAD_G_NFE: 1.3788%
- gnomAD_G_SAS: 0.3311%
- Transcripts:
- LMX1B:ENST00000373474.9:c.327-30664T>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.456759
- REMM: 0.457
- Frequency Data:
- gnomAD_G_AFR: 0.2751%
- gnomAD_G_AMR: 0.2623%
- gnomAD_G_EAS: 0.1031%
- gnomAD_G_NFE: 0.5276%
- gnomAD_G_SAS: 0.1704%
- Transcripts:
- LMX1B:ENST00000373474.9::
- Pathogenicity Data:
- Best Score: 0.245403
- REMM: 0.245
- Frequency Data:
- UK10K: 1.6530%
- gnomAD_G_AFR: 0.3030%
- gnomAD_G_AMR: 1.2881%
- gnomAD_G_NFE: 1.8114%
- gnomAD_G_SAS: 0.2277%
- Transcripts:
- LMX1B:ENST00000373474.9:c.327-30827G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0619806
- REMM: 0.062
- Frequency Data:
- No frequency data
- Transcripts:
- LMX1B:ENST00000373474.9:c.327-30696A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0493583
- REMM: 0.049
- Frequency Data:
- No frequency data
- Transcripts:
- LMX1B:ENST00000373474.9:c.327-30864C>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0490643
- REMM: 0.049
- Frequency Data:
- No frequency data
- Transcripts:
- LMX1B:ENST00000373474.9:c.327-30850C>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0465008
- REMM: 0.047
- Frequency Data:
- No frequency data
- Transcripts:
- LMX1B:ENST00000373474.9:c.327-30824A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0462956
- REMM: 0.046
- Frequency Data:
- No frequency data
- Transcripts:
- LMX1B:ENST00000373474.9:c.327-30878G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0450976
- REMM: 0.045
- Frequency Data:
- No frequency data
- Transcripts:
- LMX1B:ENST00000373474.9:c.327-30859A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0444504
- REMM: 0.044
- Frequency Data:
- No frequency data
- Transcripts:
- LMX1B:ENST00000373474.9:c.327-30675A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0399643
- REMM: 0.040
- Frequency Data:
- No frequency data
- Transcripts:
- LMX1B:ENST00000373474.9:c.327-30680T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.0392143
- REMM: 0.039
- Frequency Data:
- No frequency data
- Transcripts:
- LMX1B:ENST00000373474.9:c.327-30682C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0377143
- REMM: 0.038
- Frequency Data:
- gnomAD_G_AFR: 0.2904%
- gnomAD_G_AMR: 0.1890%
- gnomAD_G_EAS: 0.0275%
- gnomAD_G_NFE: 0.2753%
- gnomAD_G_SAS: 0.1443%
- Transcripts:
- LMX1B:ENST00000373474.9::
- Pathogenicity Data:
- Best Score: 0.001
- REMM: 0.001
- Frequency Data:
- No frequency data
- Transcripts:
- LMX1B:ENST00000373474.9::
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- UK10K: 0.0132%
- gnomAD_G_AFR: 0.0024%
- gnomAD_G_AMR: 0.0261%
- gnomAD_G_NFE: 0.1058%
- gnomAD_G_SAS: 0.0621%
- Phenotypic similarity 0.227 to zebrafish mutant involving MARS1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - ZP:0000132, ceratohyal cartilage malformed, abnormal
- HP:0006625, Multifocal breast carcinoma - ZP:0000132, ceratohyal cartilage malformed, abnormal
- Proximity score 0.501 in interactome to SLC6A17 and phenotypic similarity 0.998 to Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome associated with SLC6A17.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003002, Breast carcinoma
- HP:0006625, Multifocal breast carcinoma - HP:0003002, Breast carcinoma
- Known diseases:
- OMIM:615486 Interstitial lung and liver disease - autosomal recessive
- OMIM:616280 Charcot-Marie-Tooth disease, axonal, type 2U - autosomal dominant
- OMIM:619692 ?Trichothiodystrophy 9, nonphotosensitive (unconfirmed)
- OMIM:620323 Spastic paraplegia 70, autosomal recessive - autosomal recessive
- ORPHA:401835 Autosomal recessive spastic paraplegia type 70 - autosomal recessive
AUTOSOMAL_DOMINANT
Exomiser Score: 0.325 (p=1.5E-1)
Phenotype Score: 0.501
Variant Score: 0.800
- Transcripts:
- MARS1:ENST00000262027.10:c.664-5T>A:p.?
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- No frequency data
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.160 (p=2.2E-1)
Phenotype Score: 0.501
Variant Score: 0.699
- Transcripts:
- MARS1:ENST00000262027.10:c.664-5T>A:p.?
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- No frequency data
- Transcripts:
- MARS1:ENST00000262027.10:c.734A>G:p.(Glu245Gly)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- gnomAD_E_AMR: 0.0045%
- gnomAD_E_NFE: 0.0060%
- gnomAD_E_SAS: 0.0209%
- gnomAD_G_AFR: 0.0048%
- gnomAD_G_AMR: 0.0066%
- gnomAD_G_NFE: 0.0118%
- gnomAD_G_SAS: 0.0207%
- Pathogenicity Data:
- Best Score: 0.143606
- REMM: 0.144
- Frequency Data:
- No frequency data
- Transcripts:
- MARS1:ENST00000262027.10:c.770+2795T>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0855607
- REMM: 0.086
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.0458151
- REMM: 0.046
- Frequency Data:
- No frequency data
- Transcripts:
- MARS1:ENST00000262027.10:c.770+3045T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.0100627
- REMM: 0.010
- Frequency Data:
- No frequency data
- Transcripts:
- MARS1:ENST00000262027.10:c.770+3085T>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.00684603
- REMM: 0.007
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.0113405
- REMM: 0.011
- Frequency Data:
- gnomAD_G_AFR: 1.4344%
- Pathogenicity Data:
- Best Score: 0.00566349
- REMM: 0.006
- Frequency Data:
- No frequency data
- Transcripts:
- MARS1:ENST00000262027.10:c.770+3192T>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.00566349
- REMM: 0.006
- Frequency Data:
- No frequency data
- Transcripts:
- MARS1:ENST00000262027.10:c.770+3106C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.00484603
- REMM: 0.005
- Frequency Data:
- No frequency data
- Phenotypic similarity 0.277 to mouse mutant involving MEF2C.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0008278, failure of sternum ossification
- HP:0006625, Multifocal breast carcinoma - MP:0008278, failure of sternum ossification
- Phenotypic similarity 0.281 to zebrafish mutant involving MEF2C.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - ZP:0000935, ceratohyal-branchiostegal ray joint morphology, abnormal
- HP:0006625, Multifocal breast carcinoma - ZP:0000935, ceratohyal-branchiostegal ray joint morphology, abnormal
- Proximity score 0.510 in interactome to TWIST2 and phenotypic similarity 0.635 to Barber-Say syndrome associated with TWIST2.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0100783, Breast aplasia
- HP:0006625, Multifocal breast carcinoma - HP:0100783, Breast aplasia
- Proximity score 0.510 in interactome to TWIST2 and phenotypic similarity 0.306 to mouse mutant of TWIST2.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0008395, abnormal osteoblast differentiation
- HP:0006625, Multifocal breast carcinoma - MP:0008395, abnormal osteoblast differentiation
- Known diseases:
- OMIM:613443 Chromosome 5q14.3 deletion syndrome (CNV)
- OMIM:613443 Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language - autosomal dominant
- ORPHA:228384 5q14.3 microdeletion syndrome (CNV)
AUTOSOMAL_DOMINANT
Exomiser Score: 0.323 (p=1.5E-1)
Phenotype Score: 0.510
Variant Score: 0.789
- Pathogenicity Data:
- Best Score: 0.789257
- REMM: 0.789
- Frequency Data:
- No frequency data
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.033 (p=3.6E-1)
Phenotype Score: 0.255
Variant Score: 0.789
- Pathogenicity Data:
- Best Score: 0.789257
- REMM: 0.789
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.789257
- REMM: 0.789
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.27023
- REMM: 0.270
- Frequency Data:
- No frequency data
- Transcripts:
- MEF2C:ENST00000504921.7::
- MEF2C:ENST00000283122.8::
- Pathogenicity Data:
- Best Score: 0.221244
- REMM: 0.221
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.134804
- REMM: 0.135
- Frequency Data:
- gnomAD_G_AFR: 0.6937%
- gnomAD_G_AMR: 1.0950%
- gnomAD_G_EAS: 0.4108%
- gnomAD_G_NFE: 1.3117%
- gnomAD_G_SAS: 0.6233%
- Transcripts:
- MEF2C:ENST00000504921.7:c.258+7142del:p.(=)
- Pathogenicity Data:
- Best Score: 0.0289817
- REMM: 0.029
- Frequency Data:
- gnomAD_G_AFR: 0.7786%
- gnomAD_G_AMR: 0.5441%
- gnomAD_G_EAS: 0.0966%
- gnomAD_G_NFE: 0.3507%
- gnomAD_G_SAS: 1.3645%
- Transcripts:
- MEF2C:ENST00000504921.7:c.259-1255T>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.00199444
- REMM: 0.002
- Frequency Data:
- gnomAD_G_AFR: 0.0170%
- gnomAD_G_EAS: 0.0194%
- gnomAD_G_NFE: 0.0162%
- Proximity score 0.502 in interactome to DYRK1A and phenotypic similarity 0.618 to DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion associated with DYRK1A.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0100783, Breast aplasia
- HP:0006625, Multifocal breast carcinoma - HP:0100783, Breast aplasia
AUTOSOMAL_DOMINANT
Exomiser Score: 0.310 (p=1.5E-1)
Phenotype Score: 0.502
Variant Score: 0.791
- Transcripts:
- NRG3:ENST00000372141.7::
- Pathogenicity Data:
- Best Score: 0.791409
- REMM: 0.791
- Frequency Data:
- No frequency data
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.174 (p=2.1E-1)
Phenotype Score: 0.502
Variant Score: 0.709
- Transcripts:
- NRG3:ENST00000372141.7::
- Pathogenicity Data:
- Best Score: 0.791409
- REMM: 0.791
- Frequency Data:
- No frequency data
- Transcripts:
- NRG3:ENST00000372141.7:c.824-161467A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.627599
- REMM: 0.628
- Frequency Data:
- gnomAD_G_AFR: 0.0024%
- gnomAD_G_AMR: 0.0131%
- Pathogenicity Data:
- Best Score: 0.555319
- REMM: 0.555
- Frequency Data:
- No frequency data
- Transcripts:
- NRG3:ENST00000372141.7:c.953+65292G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.551319
- REMM: 0.551
- Frequency Data:
- gnomAD_G_NFE: 0.0044%
- gnomAD_G_SAS: 0.0415%
- Transcripts:
- NRG3:ENST00000372141.7:c.953+166753T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.559663
- REMM: 0.560
- Frequency Data:
- UK10K: 0.5554%
- gnomAD_G_AFR: 0.0603%
- gnomAD_G_AMR: 0.3475%
- gnomAD_G_NFE: 0.4781%
- gnomAD_G_SAS: 0.1243%
- Transcripts:
- NRG3:ENST00000372141.7:c.954-177659T>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.497309
- REMM: 0.497
- Frequency Data:
- No frequency data
- Transcripts:
- NRG3:ENST00000372141.7:c.1284+3504C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.468837
- REMM: 0.469
- Frequency Data:
- UK10K: 0.0132%
- gnomAD_G_NFE: 0.0044%
- Pathogenicity Data:
- Best Score: 0.454164
- REMM: 0.454
- Frequency Data:
- No frequency data
- Transcripts:
- NRG3:ENST00000372141.7:c.954-26075C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.46967
- REMM: 0.470
- Frequency Data:
- UK10K: 0.1719%
- gnomAD_G_AFR: 0.0217%
- gnomAD_G_AMR: 0.0588%
- gnomAD_G_NFE: 0.2867%
- gnomAD_G_SAS: 0.2692%
- Pathogenicity Data:
- Best Score: 0.439009
- REMM: 0.439
- Frequency Data:
- No frequency data
- Transcripts:
- NRG3:ENST00000372141.7:c.953+168305del:p.(=)
- Pathogenicity Data:
- Best Score: 0.438489
- REMM: 0.438
- Frequency Data:
- gnomAD_G_AFR: 0.0025%
- gnomAD_G_NFE: 0.0135%
- Transcripts:
- NRG3:ENST00000372141.7::
- Pathogenicity Data:
- Best Score: 0.428032
- REMM: 0.428
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.416099
- REMM: 0.416
- Frequency Data:
- No frequency data
- Transcripts:
- NRG3:ENST00000372141.7:c.954-119461C>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.439195
- REMM: 0.439
- Frequency Data:
- UK10K: 0.5951%
- gnomAD_G_AFR: 0.0920%
- gnomAD_G_AMR: 0.1772%
- gnomAD_G_NFE: 0.5730%
- gnomAD_G_SAS: 0.0836%
- Transcripts:
- NRG3:ENST00000372141.7:c.824-34527T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.384749
- REMM: 0.385
- Frequency Data:
- gnomAD_G_NFE: 0.0044%
- gnomAD_G_SAS: 0.0414%
- Pathogenicity Data:
- Best Score: 0.266596
- REMM: 0.267
- Frequency Data:
- No frequency data
- Transcripts:
- NRG3:ENST00000372141.7:c.953+163172del:p.(=)
- Pathogenicity Data:
- Best Score: 0.257133
- REMM: 0.257
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.2483
- REMM: 0.248
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.247858
- REMM: 0.248
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.343259
- REMM: 0.343
- Frequency Data:
- gnomAD_G_AFR: 0.2457%
- gnomAD_G_AMR: 0.4365%
- gnomAD_G_EAS: 0.1237%
- gnomAD_G_NFE: 1.1457%
- gnomAD_G_SAS: 0.6100%
- Transcripts:
- NRG3:ENST00000372141.7:c.954-89117del:p.(=)
- Pathogenicity Data:
- Best Score: 0.168202
- REMM: 0.168
- Frequency Data:
- No frequency data
- Transcripts:
- NRG3:ENST00000372141.7:c.823+167427T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.555551
- REMM: 0.556
- Frequency Data:
- UK10K: 1.8910%
- gnomAD_G_AFR: 0.2480%
- gnomAD_G_AMR: 0.8396%
- gnomAD_G_NFE: 1.8188%
- gnomAD_G_SAS: 0.3317%
- Transcripts:
- NRG3:ENST00000372141.7:c.823+170619del:p.(=)
- Pathogenicity Data:
- Best Score: 0.097354
- REMM: 0.097
- Frequency Data:
- No frequency data
- Transcripts:
- NRG3:ENST00000372141.7:c.823+170638G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0967016
- REMM: 0.097
- Frequency Data:
- No frequency data
- Transcripts:
- NRG3:ENST00000372141.7:c.823+170443T>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0871329
- REMM: 0.087
- Frequency Data:
- No frequency data
- Transcripts:
- NRG3:ENST00000372141.7:c.953+186916del:p.(=)
- Pathogenicity Data:
- Best Score: 0.0794548
- REMM: 0.079
- Frequency Data:
- No frequency data
- Transcripts:
- NRG3:ENST00000372141.7:c.1054+18574T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.341023
- REMM: 0.341
- Frequency Data:
- UK10K: 0.7405%
- gnomAD_G_AFR: 0.1756%
- gnomAD_G_AMR: 1.9321%
- gnomAD_G_NFE: 0.7417%
- gnomAD_G_SAS: 0.7887%
- Transcripts:
- NRG3:ENST00000372141.7:c.823+170132A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0683175
- REMM: 0.068
- Frequency Data:
- No frequency data
- Transcripts:
- NRG3:ENST00000372141.7:c.823+170120T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.0664964
- REMM: 0.066
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.0575837
- REMM: 0.058
- Frequency Data:
- No frequency data
- Transcripts:
- NRG3:ENST00000372141.7::
- Pathogenicity Data:
- Best Score: 0.0574881
- REMM: 0.057
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.0546008
- REMM: 0.055
- Frequency Data:
- No frequency data
- Transcripts:
- NRG3:ENST00000372141.7:c.823+170327T>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0489143
- REMM: 0.049
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.0468429
- REMM: 0.047
- Frequency Data:
- No frequency data
- Transcripts:
- NRG3:ENST00000372141.7:c.823+213378A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.181965
- REMM: 0.182
- Frequency Data:
- UK10K: 1.9439%
- gnomAD_G_AFR: 0.2526%
- gnomAD_G_AMR: 0.7979%
- gnomAD_G_NFE: 1.8436%
- gnomAD_G_SAS: 0.3521%
- Transcripts:
- NRG3:ENST00000372141.7:c.823+169047A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0330286
- REMM: 0.033
- Frequency Data:
- No frequency data
- Transcripts:
- NRG3:ENST00000372141.7:c.823+170150A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0256313
- REMM: 0.026
- Frequency Data:
- No frequency data
- Transcripts:
- NRG3:ENST00000372141.7:c.823+170222G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.025206
- REMM: 0.025
- Frequency Data:
- No frequency data
- Transcripts:
- NRG3:ENST00000372141.7:c.823+169592A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0248
- REMM: 0.025
- Frequency Data:
- No frequency data
- Transcripts:
- NRG3:ENST00000372141.7:c.823+169591A>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.0243
- REMM: 0.024
- Frequency Data:
- No frequency data
- Transcripts:
- NRG3:ENST00000372141.7:c.823+170243G>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0183183
- REMM: 0.018
- Frequency Data:
- No frequency data
- Transcripts:
- NRG3:ENST00000372141.7:c.823+169558T>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.017221
- REMM: 0.017
- Frequency Data:
- No frequency data
- Transcripts:
- NRG3:ENST00000372141.7:c.823+170416T>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0166206
- REMM: 0.017
- Frequency Data:
- No frequency data
- Transcripts:
- NRG3:ENST00000372141.7:c.823+170405T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.0146206
- REMM: 0.015
- Frequency Data:
- No frequency data
- Transcripts:
- NRG3:ENST00000372141.7:c.823+169117A>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.0127698
- REMM: 0.013
- Frequency Data:
- No frequency data
- Transcripts:
- NRG3:ENST00000372141.7::
- Pathogenicity Data:
- Best Score: 0.0107706
- REMM: 0.011
- Frequency Data:
- gnomAD_G_NFE: 0.0044%
- Pathogenicity Data:
- Best Score: 0.0089496
- REMM: 0.009
- Frequency Data:
- No frequency data
- Transcripts:
- NRG3:ENST00000372141.7:c.953+3211_953+3212insA:p.(=)
- Pathogenicity Data:
- Best Score: 0.00674127
- REMM: 0.007
- Frequency Data:
- gnomAD_G_AFR: 0.2779%
- gnomAD_G_AMR: 0.4335%
- gnomAD_G_EAS: 0.3704%
- gnomAD_G_NFE: 1.3638%
- Transcripts:
- NRG3:ENST00000372141.7:c.953+120797del:p.(=)
- Pathogenicity Data:
- Best Score: 0.001
- REMM: 0.001
- Frequency Data:
- No frequency data
- Transcripts:
- NRG3:ENST00000372141.7:c.823+169089C>T:p.(=)
- Pathogenicity Data:
- Best Score: 4.33333E-4
- REMM: 0.000
- Frequency Data:
- No frequency data
- Transcripts:
- NRG3:ENST00000372141.7:c.823+169090A>G:p.(=)
- Pathogenicity Data:
- Best Score: 4.33333E-4
- REMM: 0.000
- Frequency Data:
- No frequency data
- Transcripts:
- NRG3:ENST00000372141.7::
- Pathogenicity Data:
- Best Score: 2.0E-4
- REMM: 0.000
- Frequency Data:
- gnomAD_G_AFR: 0.2938%
- gnomAD_G_AMR: 0.4306%
- gnomAD_G_EAS: 0.0789%
- gnomAD_G_NFE: 0.4933%
- gnomAD_G_SAS: 0.2953%
- Transcripts:
- NRG3:ENST00000372141.7::
- Pathogenicity Data:
- Best Score: 1.0E-4
- REMM: 0.000
- Frequency Data:
- UK10K: 1.4414%
- gnomAD_G_AFR: 0.2603%
- gnomAD_G_AMR: 0.5499%
- gnomAD_G_EAS: 0.0387%
- gnomAD_G_NFE: 1.5811%
- gnomAD_G_SAS: 0.2490%
- Transcripts:
- NRG3:ENST00000372141.7:c.1054+12125G>T:p.(=)
- Pathogenicity Data:
- Best Score: 1.95695E-6
- REMM: 0.000
- Frequency Data:
- No frequency data
- Transcripts:
- NRG3:ENST00000372141.7::
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- UK10K: 1.6927%
- gnomAD_G_AFR: 0.2988%
- gnomAD_G_AMR: 0.6867%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 1.6122%
- gnomAD_G_SAS: 0.6432%
- Transcripts:
- NRG3:ENST00000372141.7:c.823+165320T>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- UK10K: 0.0132%
- gnomAD_G_AMR: 0.0066%
- gnomAD_G_NFE: 0.0029%
- Transcripts:
- NRG3:ENST00000372141.7:c.824-210166G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- gnomAD_G_AFR: 0.0217%
- gnomAD_G_NFE: 0.0059%
- Transcripts:
- NRG3:ENST00000372141.7:c.824-157542del:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- No frequency data
- Transcripts:
- NRG3:ENST00000372141.7:c.824-89961G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- UK10K: 0.4893%
- gnomAD_G_AFR: 0.0578%
- gnomAD_G_AMR: 0.1507%
- gnomAD_G_EAS: 0.0194%
- gnomAD_G_NFE: 0.5457%
- gnomAD_G_SAS: 0.1662%
- Transcripts:
- NRG3:ENST00000372141.7:c.953+164011C>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- UK10K: 0.5554%
- gnomAD_G_AFR: 0.0602%
- gnomAD_G_AMR: 0.3534%
- gnomAD_G_NFE: 0.4751%
- gnomAD_G_SAS: 0.1244%
- Transcripts:
- NRG3:ENST00000372141.7:c.954-71927G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- UK10K: 0.1587%
- gnomAD_G_AFR: 0.0337%
- gnomAD_G_AMR: 0.3927%
- gnomAD_G_NFE: 0.5088%
- gnomAD_G_SAS: 0.1242%
- Transcripts:
- NRG3:ENST00000372141.7:c.1054+2445G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- gnomAD_G_AFR: 0.0024%
- gnomAD_G_NFE: 0.0015%
- Phenotypic similarity 0.594 to Ear-patella-short stature syndrome associated with ORC6.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0100783, Breast aplasia
- HP:0006625, Multifocal breast carcinoma - HP:0100783, Breast aplasia
- Proximity score 0.504 in interactome to ORC4 and phenotypic similarity 0.620 to Meier-Gorlin syndrome 2 associated with ORC4.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003187, Breast hypoplasia
- HP:0006625, Multifocal breast carcinoma - HP:0003187, Breast hypoplasia
- Known diseases:
- OMIM:613803 Meier-Gorlin syndrome 3 - autosomal recessive
- ORPHA:2554 Ear-patella-short stature syndrome - autosomal recessive
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.305 (p=1.5E-1)
Phenotype Score: 0.594
Variant Score: 0.685
- Phenotype matches to diseases consistent with this MOI:
- Phenotypic similarity 0.594 to ORPHA:2554 Ear-patella-short stature syndrome
- Phenotypic similarity 0.577 to OMIM:613803 Meier-Gorlin syndrome 3
- Transcripts:
- ORC6:ENST00000219097.7:c.-47G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.830713
- REMM: 0.831
- Frequency Data:
- UK10K: 0.2645%
- gnomAD_E_AFR: 0.0881%
- gnomAD_E_AMR: 0.3839%
- gnomAD_E_NFE: 0.2761%
- gnomAD_E_SAS: 0.7192%
- gnomAD_G_AFR: 0.0409%
- gnomAD_G_AMR: 0.4244%
- gnomAD_G_NFE: 0.3719%
- gnomAD_G_SAS: 0.6832%
- Pathogenicity Data:
- Best Score: 0.780591
- REMM: 0.781
- Frequency Data:
- gnomAD_G_AFR: 0.0575%
- gnomAD_G_AMR: 0.6800%
- gnomAD_G_NFE: 0.4668%
- gnomAD_G_SAS: 0.7740%
AUTOSOMAL_DOMINANT
Exomiser Score: 0.000 (p=9.1E-1)
Phenotype Score: 0.252
Variant Score: 0.052
- Transcripts:
- Pathogenicity Data:
- Best Score: 0.0521786
- REMM: 0.052
- Frequency Data:
- No frequency data
- Transcripts:
- ORC6:ENST00000219097.7:c.450-887del:p.(=)
- Pathogenicity Data:
- Best Score: 0.468101
- REMM: 0.468
- Frequency Data:
- gnomAD_G_AFR: 0.2218%
- gnomAD_G_AMR: 0.6242%
- gnomAD_G_EAS: 0.2962%
- gnomAD_G_NFE: 0.4971%
- gnomAD_G_SAS: 0.6016%
- Transcripts:
- ORC6:ENST00000219097.7:c.449+822C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.294891
- REMM: 0.295
- Frequency Data:
- No frequency data
- Transcripts:
- ORC6:ENST00000219097.7:c.449+668_449+669insA:p.(=)
- Pathogenicity Data:
- Best Score: 0.285714
- REMM: 0.286
- Frequency Data:
- No frequency data
- Transcripts:
- ORC6:ENST00000219097.7:c.449+697T>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.28453
- REMM: 0.285
- Frequency Data:
- No frequency data
- Transcripts:
- ORC6:ENST00000219097.7:c.449+1189C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.22487
- REMM: 0.225
- Frequency Data:
- No frequency data
- Transcripts:
- Pathogenicity Data:
- Best Score: 0.00884603
- REMM: 0.009
- Frequency Data:
- UK10K: 0.3042%
- gnomAD_G_AFR: 0.0385%
- gnomAD_G_AMR: 0.4252%
- gnomAD_G_NFE: 0.3750%
- gnomAD_G_SAS: 0.6661%
- Phenotypic similarity 0.523 to Fibrochondrogenesis 2 associated with COL11A2.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0005257, Thoracic hypoplasia
- HP:0006625, Multifocal breast carcinoma - HP:0005257, Thoracic hypoplasia
- Phenotypic similarity 0.326 to mouse mutant involving COL11A2.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0000438, abnormal cranium morphology
- HP:0006625, Multifocal breast carcinoma - MP:0000438, abnormal cranium morphology
- Phenotypic similarity 0.291 to zebrafish mutant involving COL11A2.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - ZP:0000137, perichordal connective tissue morphology, abnormal
- HP:0006625, Multifocal breast carcinoma - ZP:0000137, perichordal connective tissue morphology, abnormal
- Proximity score 0.507 in interactome to SOX6 and phenotypic similarity 0.643 to Tolchin-Le Caignec syndrome associated with SOX6.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003186, Inverted nipples
- HP:0006625, Multifocal breast carcinoma - HP:0003186, Inverted nipples
- Proximity score 0.507 in interactome to SOX6 and phenotypic similarity 0.352 to mouse mutant of SOX6.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0000157, abnormal sternum morphology
- HP:0006625, Multifocal breast carcinoma - MP:0000157, abnormal sternum morphology
- Proximity score 0.507 in interactome to SOX6 and phenotypic similarity 0.456 to fish mutant of SOX6.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - ZP:0012232, vertebral column curved, abnormal
- HP:0006625, Multifocal breast carcinoma - ZP:0012232, vertebral column curved, abnormal
- Known diseases:
- OMIM:184840 Otospondylomegaepiphyseal dysplasia, autosomal dominant - autosomal dominant
- OMIM:215150 Otospondylomegaepiphyseal dysplasia, autosomal recessive - autosomal recessive
- OMIM:601868 Deafness, autosomal dominant 13 - autosomal dominant
- OMIM:609706 Deafness, autosomal recessive 53 - autosomal recessive
- OMIM:614524 Fibrochondrogenesis 2 - autosomal dominant/recessive
- ORPHA:1427 Otospondylomegaepiphyseal dysplasia - autosomal recessive
- ORPHA:166100 Autosomal dominant otospondylomegaepiphyseal dysplasia - autosomal dominant
- ORPHA:2021 Fibrochondrogenesis - autosomal dominant/recessive
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.300 (p=1.6E-1)
Phenotype Score: 0.523
Variant Score: 0.763
- Phenotype matches to diseases consistent with this MOI:
- Phenotypic similarity 0.523 to OMIM:614524 Fibrochondrogenesis 2
- Phenotypic similarity 0.492 to ORPHA:2021 Fibrochondrogenesis
- Transcripts:
- COL11A2:ENST00000341947.7::
- Pathogenicity Data:
- Best Score: 0.762772
- REMM: 0.763
- Frequency Data:
- No frequency data
AUTOSOMAL_DOMINANT
Exomiser Score: 0.000 (p=8.0E-1)
Phenotype Score: 0.523
Variant Score: 0.024
- Phenotype matches to diseases consistent with this MOI:
- Phenotypic similarity 0.523 to OMIM:614524 Fibrochondrogenesis 2
- Phenotypic similarity 0.492 to ORPHA:2021 Fibrochondrogenesis
- Phenotypic similarity 0.463 to ORPHA:166100 Autosomal dominant otospondylomegaepiphyseal dysplasia
- Transcripts:
- COL11A2:ENST00000341947.7:c.4338+21C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0239218
- REMM: 0.024
- Frequency Data:
- gnomAD_E_AFR: 0.0627%
- gnomAD_E_AMR: 0.0045%
- gnomAD_E_NFE: 0.0101%
- gnomAD_E_SAS: 0.0035%
- gnomAD_G_AFR: 0.0798%
- gnomAD_G_AMR: 0.0131%
- gnomAD_G_NFE: 0.0118%
- Transcripts:
- COL11A2:ENST00000341947.7:c.1612-10G>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.666144
- REMM: 0.666
- Frequency Data:
- UK10K: 0.1058%
- gnomAD_E_AFR: 0.0060%
- gnomAD_E_AMR: 0.0335%
- gnomAD_E_NFE: 0.1263%
- gnomAD_E_SAS: 0.1623%
- gnomAD_G_AFR: 0.0096%
- gnomAD_G_AMR: 0.0262%
- gnomAD_G_EAS: 0.0388%
- gnomAD_G_NFE: 0.1368%
- gnomAD_G_SAS: 0.2489%
- Transcripts:
- COL11A2:ENST00000341947.7:c.2790+177G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0589329
- REMM: 0.059
- Frequency Data:
- UK10K: 0.1058%
- gnomAD_G_AFR: 0.0193%
- gnomAD_G_AMR: 0.0458%
- gnomAD_G_EAS: 0.1354%
- gnomAD_G_NFE: 0.1441%
- gnomAD_G_SAS: 0.2489%
- Phenotypic similarity 0.545 to Atelosteogenesis type I associated with FLNB.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0005257, Thoracic hypoplasia
- HP:0006625, Multifocal breast carcinoma - HP:0005257, Thoracic hypoplasia
- Phenotypic similarity 0.373 to mouse mutant involving FLNB.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0004624, abnormal thoracic cage morphology
- HP:0006625, Multifocal breast carcinoma - MP:0004624, abnormal thoracic cage morphology
- Known diseases:
- OMIM:108720 Atelosteogenesis, type I - autosomal dominant
- OMIM:108721 Atelosteogenesis, type III - autosomal dominant
- OMIM:112310 Boomerang dysplasia - autosomal dominant
- OMIM:150250 Larsen syndrome - autosomal dominant
- OMIM:272460 Spondylocarpotarsal synostosis syndrome - autosomal recessive
- ORPHA:1190 Atelosteogenesis type I - autosomal dominant
- ORPHA:1263 Boomerang dysplasia - autosomal dominant
- ORPHA:503 Larsen syndrome - autosomal dominant
- ORPHA:56305 Atelosteogenesis type III - autosomal dominant
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.298 (p=1.6E-1)
Phenotype Score: 0.453
Variant Score: 0.841
- Phenotype matches to diseases consistent with this MOI:
- Phenotypic similarity 0.453 to OMIM:272460 Spondylocarpotarsal synostosis syndrome
- Transcripts:
- FLNB:ENST00000295956.9:c.4391-825T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.981995
- REMM: 0.982
- Frequency Data:
- UK10K: 0.0132%
- gnomAD_E_AFR: 0.0095%
- gnomAD_E_AMR: 0.0756%
- gnomAD_E_NFE: 0.0485%
- gnomAD_E_SAS: 0.0416%
- gnomAD_G_AFR: 0.0120%
- gnomAD_G_AMR: 0.1960%
- gnomAD_G_NFE: 0.0691%
- gnomAD_G_SAS: 0.0207%
- Transcripts:
- FLNB:ENST00000295956.9:c.5110-62T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.737037
- REMM: 0.737
- Frequency Data:
- UK10K: 0.0397%
- gnomAD_E_AFR: 0.0235%
- gnomAD_E_AMR: 0.0854%
- gnomAD_E_NFE: 0.0476%
- gnomAD_E_SAS: 0.0863%
- gnomAD_G_AFR: 0.0072%
- gnomAD_G_AMR: 0.0653%
- gnomAD_G_NFE: 0.0823%
- gnomAD_G_SAS: 0.0621%
AUTOSOMAL_DOMINANT
Exomiser Score: 0.282 (p=1.6E-1)
Phenotype Score: 0.545
Variant Score: 0.728
- Phenotype matches to diseases consistent with this MOI:
- Phenotypic similarity 0.545 to ORPHA:1190 Atelosteogenesis type I
- Phenotypic similarity 0.535 to ORPHA:56305 Atelosteogenesis type III
- Phenotypic similarity 0.524 to ORPHA:1263 Boomerang dysplasia
- Phenotypic similarity 0.510 to OMIM:108720 Atelosteogenesis, type I
- Phenotypic similarity 0.463 to OMIM:150250 Larsen syndrome
- Transcripts:
- FLNB:ENST00000295956.9:c.5110-62T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.737037
- REMM: 0.737
- Frequency Data:
- UK10K: 0.0397%
- gnomAD_E_AFR: 0.0235%
- gnomAD_E_AMR: 0.0854%
- gnomAD_E_NFE: 0.0476%
- gnomAD_E_SAS: 0.0863%
- gnomAD_G_AFR: 0.0072%
- gnomAD_G_AMR: 0.0653%
- gnomAD_G_NFE: 0.0823%
- gnomAD_G_SAS: 0.0621%
- Transcripts:
- FLNB:ENST00000295956.9:c.293-15046A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.702702
- REMM: 0.703
- Frequency Data:
- UK10K: 0.0132%
- gnomAD_G_AFR: 0.0097%
- gnomAD_G_AMR: 0.0591%
- gnomAD_G_NFE: 0.0692%
- gnomAD_G_SAS: 0.0418%
- Transcripts:
- FLNB:ENST00000295956.9:c.292+17959G>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.701179
- REMM: 0.701
- Frequency Data:
- UK10K: 0.0132%
- gnomAD_G_AFR: 0.0072%
- gnomAD_G_AMR: 0.2158%
- gnomAD_G_NFE: 0.0617%
- gnomAD_G_SAS: 0.0207%
- Transcripts:
- FLNB:ENST00000295956.9::
- Pathogenicity Data:
- Best Score: 0.484476
- REMM: 0.484
- Frequency Data:
- gnomAD_G_AFR: 0.0133%
- gnomAD_G_AMR: 0.2371%
- gnomAD_G_NFE: 0.0693%
- gnomAD_G_SAS: 0.0231%
- Transcripts:
- FLNB:ENST00000295956.9::
- Pathogenicity Data:
- Best Score: 0.449352
- REMM: 0.449
- Frequency Data:
- No frequency data
- Transcripts:
- FLNB:ENST00000295956.9::
- Pathogenicity Data:
- Best Score: 0.719149
- REMM: 0.719
- Frequency Data:
- UK10K: 1.2298%
- gnomAD_G_AFR: 0.1926%
- gnomAD_G_AMR: 0.9741%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 1.2531%
- gnomAD_G_SAS: 1.4559%
- Transcripts:
- FLNB:ENST00000295956.9:c.4514+507_4514+510del:p.(=)
- Pathogenicity Data:
- Best Score: 0.394214
- REMM: 0.394
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.313166
- REMM: 0.313
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.312003
- REMM: 0.312
- Frequency Data:
- No frequency data
- Transcripts:
- FLNB:ENST00000295956.9::
- Pathogenicity Data:
- Best Score: 0.541583
- REMM: 0.542
- Frequency Data:
- UK10K: 1.2034%
- gnomAD_G_AFR: 0.1864%
- gnomAD_G_AMR: 0.9400%
- gnomAD_G_EAS: 0.0195%
- gnomAD_G_NFE: 1.2155%
- gnomAD_G_SAS: 1.5075%
- Transcripts:
- FLNB:ENST00000295956.9::
- Pathogenicity Data:
- Best Score: 0.264469
- REMM: 0.264
- Frequency Data:
- No frequency data
- Transcripts:
- FLNB:ENST00000295956.9:c.292+9472del:p.(=)
- Pathogenicity Data:
- Best Score: 0.249987
- REMM: 0.250
- Frequency Data:
- No frequency data
- Transcripts:
- FLNB:ENST00000295956.9:c.293-31046del:p.(=)
- Pathogenicity Data:
- Best Score: 0.249829
- REMM: 0.250
- Frequency Data:
- No frequency data
- Transcripts:
- FLNB:ENST00000295956.9::
- Pathogenicity Data:
- Best Score: 0.233772
- REMM: 0.234
- Frequency Data:
- gnomAD_G_NFE: 0.0031%
- Transcripts:
- FLNB:ENST00000295956.9:c.292+10106C>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.20139
- REMM: 0.201
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.188777
- REMM: 0.189
- Frequency Data:
- gnomAD_G_AFR: 0.7502%
- gnomAD_G_AMR: 0.9081%
- gnomAD_G_NFE: 0.8067%
- gnomAD_G_SAS: 1.0307%
- Pathogenicity Data:
- Best Score: 0.130724
- REMM: 0.131
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.130724
- REMM: 0.131
- Frequency Data:
- No frequency data
- Transcripts:
- FLNB:ENST00000295956.9:c.293-5771del:p.(=)
- Pathogenicity Data:
- Best Score: 0.0465151
- REMM: 0.047
- Frequency Data:
- No frequency data
- Transcripts:
- FLNB:ENST00000295956.9:c.7621+297G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0130302
- REMM: 0.013
- Frequency Data:
- UK10K: 0.0132%
- gnomAD_G_AMR: 0.0131%
- gnomAD_G_EAS: 0.0385%
- gnomAD_G_NFE: 0.0059%
- Transcripts:
- FLNB:ENST00000295956.9:c.293-23485A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.00354206
- REMM: 0.004
- Frequency Data:
- UK10K: 0.0132%
- gnomAD_G_AFR: 0.0120%
- gnomAD_G_AMR: 0.0327%
- gnomAD_G_NFE: 0.0632%
- gnomAD_G_SAS: 0.0208%
- Transcripts:
- FLNB:ENST00000295956.9::
- Pathogenicity Data:
- Best Score: 0.00170159
- REMM: 0.002
- Frequency Data:
- gnomAD_G_AFR: 0.0289%
- gnomAD_G_AMR: 0.0131%
- gnomAD_G_NFE: 0.0059%
- Transcripts:
- FLNB:ENST00000295956.9:c.4223-245G>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.001
- REMM: 0.001
- Frequency Data:
- No frequency data
- Transcripts:
- FLNB:ENST00000295956.9:c.293-7813del:p.(=)
- Pathogenicity Data:
- Best Score: 8.66667E-4
- REMM: 0.001
- Frequency Data:
- No frequency data
- Transcripts:
- FLNB:ENST00000295956.9:c.293-30591G>T:p.(=)
- Pathogenicity Data:
- Best Score: 2.5E-4
- REMM: 0.000
- Frequency Data:
- gnomAD_G_AFR: 0.1376%
- gnomAD_G_AMR: 0.9551%
- gnomAD_G_EAS: 0.0202%
- gnomAD_G_NFE: 1.0005%
- gnomAD_G_SAS: 1.0412%
- Phenotypic similarity 0.569 to Fraser syndrome associated with GRIP1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0006610, Wide intermamillary distance
- HP:0006625, Multifocal breast carcinoma - HP:0006610, Wide intermamillary distance
- Proximity score 0.502 in interactome to OPCML and phenotypic similarity 0.998 to Ovarian cancer, somatic associated with OPCML.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003002, Breast carcinoma
- HP:0006625, Multifocal breast carcinoma - HP:0003002, Breast carcinoma
- Known diseases:
- OMIM:617667 Fraser syndrome 3 - autosomal recessive
- ORPHA:2052 Fraser syndrome - autosomal recessive
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.277 (p=1.6E-1)
Phenotype Score: 0.569
Variant Score: 0.699
- Phenotype matches to diseases consistent with this MOI:
- Phenotypic similarity 0.569 to ORPHA:2052 Fraser syndrome
- Transcripts:
- GRIP1:ENST00000359742.9:c.56-28468G>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.771426
- REMM: 0.771
- Frequency Data:
- gnomAD_G_NFE: 0.0044%
- Pathogenicity Data:
- Best Score: 0.626634
- REMM: 0.627
- Frequency Data:
- No frequency data
AUTOSOMAL_DOMINANT
Exomiser Score: 0.027 (p=3.8E-1)
Phenotype Score: 0.251
Variant Score: 0.771
- Transcripts:
- GRIP1:ENST00000359742.9:c.56-28468G>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.771426
- REMM: 0.771
- Frequency Data:
- gnomAD_G_NFE: 0.0044%
- Transcripts:
- GRIP1:ENST00000359742.9:c.160G>A:p.(Val54Ile)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- UK10K: 0.0793%
- gnomAD_E_AFR: 0.0269%
- gnomAD_E_AMR: 0.1744%
- gnomAD_E_NFE: 0.0727%
- gnomAD_E_SAS: 0.1449%
- gnomAD_G_AFR: 0.0217%
- gnomAD_G_AMR: 0.1634%
- gnomAD_G_NFE: 0.0941%
- gnomAD_G_SAS: 0.0831%
- Transcripts:
- GRIP1:ENST00000359742.9:c.2464+3855T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.562291
- REMM: 0.562
- Frequency Data:
- No frequency data
- Transcripts:
- GRIP1:ENST00000359742.9:c.418+3572A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.510294
- REMM: 0.510
- Frequency Data:
- gnomAD_G_AFR: 0.0024%
- gnomAD_G_NFE: 0.0103%
- Pathogenicity Data:
- Best Score: 0.626634
- REMM: 0.627
- Frequency Data:
- gnomAD_G_AFR: 1.0158%
- gnomAD_G_AMR: 0.3422%
- gnomAD_G_EAS: 1.0164%
- gnomAD_G_NFE: 0.4567%
- gnomAD_G_SAS: 0.5861%
- Transcripts:
- GRIP1:ENST00000359742.9:c.56-29292C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.56782
- REMM: 0.568
- Frequency Data:
- UK10K: 0.6876%
- gnomAD_G_AFR: 0.1665%
- gnomAD_G_AMR: 0.4065%
- gnomAD_G_NFE: 1.0807%
- gnomAD_G_SAS: 0.7923%
- Pathogenicity Data:
- Best Score: 0.349688
- REMM: 0.350
- Frequency Data:
- gnomAD_G_NFE: 0.0030%
- Transcripts:
- GRIP1:ENST00000359742.9:c.273-324_273-323del:p.(=)
- Pathogenicity Data:
- Best Score: 0.339703
- REMM: 0.340
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.360733
- REMM: 0.361
- Frequency Data:
- gnomAD_G_AFR: 0.4096%
- gnomAD_G_AMR: 0.0318%
- gnomAD_G_NFE: 0.0460%
- gnomAD_G_SAS: 0.0786%
- Pathogenicity Data:
- Best Score: 0.325504
- REMM: 0.326
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.175986
- REMM: 0.176
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.131665
- REMM: 0.132
- Frequency Data:
- gnomAD_G_AFR: 0.2052%
- gnomAD_G_AMR: 0.2391%
- gnomAD_G_EAS: 0.3567%
- gnomAD_G_NFE: 0.1257%
- gnomAD_G_SAS: 0.2584%
- Transcripts:
- GRIP1:ENST00000359742.9:c.2283G>A:p.(=)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- UK10K: 0.1455%
- gnomAD_E_AFR: 0.0269%
- gnomAD_E_AMR: 0.2079%
- gnomAD_E_NFE: 0.1128%
- gnomAD_E_SAS: 0.2470%
- gnomAD_G_AFR: 0.0241%
- gnomAD_G_AMR: 0.2159%
- gnomAD_G_NFE: 0.1397%
- gnomAD_G_SAS: 0.2497%
- Pathogenicity Data:
- Best Score: 0.0617778
- REMM: 0.062
- Frequency Data:
- No frequency data
- Transcripts:
- GRIP1:ENST00000359742.9:c.136+12672C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0594266
- REMM: 0.059
- Frequency Data:
- No frequency data
- Transcripts:
- GRIP1:ENST00000359742.9:c.419-1368_419-1334del:p.(=)
- Pathogenicity Data:
- Best Score: 0.149387
- REMM: 0.149
- Frequency Data:
- gnomAD_G_AFR: 0.1147%
- gnomAD_G_AMR: 0.0450%
- gnomAD_G_EAS: 0.5387%
- gnomAD_G_NFE: 0.0544%
- gnomAD_G_SAS: 1.7112%
- Transcripts:
- GRIP1:ENST00000359742.9:c.136+12638C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0502036
- REMM: 0.050
- Frequency Data:
- No frequency data
- Transcripts:
- GRIP1:ENST00000359742.9:c.136+13013C>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0402476
- REMM: 0.040
- Frequency Data:
- No frequency data
- Transcripts:
- GRIP1:ENST00000359742.9:c.136+13014A>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.0332476
- REMM: 0.033
- Frequency Data:
- No frequency data
- Transcripts:
- GRIP1:ENST00000359742.9:c.136+11577G>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0323444
- REMM: 0.032
- Frequency Data:
- No frequency data
- Transcripts:
- GRIP1:ENST00000359742.9:c.1769-5090C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0957278
- REMM: 0.096
- Frequency Data:
- gnomAD_G_AFR: 0.2696%
- gnomAD_G_AMR: 1.1265%
- gnomAD_G_EAS: 0.0773%
- gnomAD_G_NFE: 1.7968%
- gnomAD_G_SAS: 0.8299%
- Transcripts:
- GRIP1:ENST00000359742.9:c.55+17371T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.0275115
- REMM: 0.028
- Frequency Data:
- No frequency data
- Transcripts:
- GRIP1:ENST00000359742.9:c.136+13136G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0210786
- REMM: 0.021
- Frequency Data:
- gnomAD_G_AFR: 0.1365%
- gnomAD_G_AMR: 0.0994%
- gnomAD_G_EAS: 0.2587%
- gnomAD_G_NFE: 0.0932%
- gnomAD_G_SAS: 0.2044%
- Transcripts:
- GRIP1:ENST00000359742.9:c.503-5382C>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.019998
- REMM: 0.020
- Frequency Data:
- No frequency data
- Transcripts:
- GRIP1:ENST00000359742.9:c.136+11540T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.0191405
- REMM: 0.019
- Frequency Data:
- No frequency data
- Transcripts:
- GRIP1:ENST00000359742.9:c.136+12985C>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0182921
- REMM: 0.018
- Frequency Data:
- No frequency data
- Transcripts:
- GRIP1:ENST00000359742.9:c.136+13040C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0147698
- REMM: 0.015
- Frequency Data:
- gnomAD_G_AFR: 0.2182%
- gnomAD_G_AMR: 0.2617%
- gnomAD_G_EAS: 0.3452%
- gnomAD_G_NFE: 0.2425%
- gnomAD_G_SAS: 0.2123%
- Transcripts:
- GRIP1:ENST00000359742.9:c.136+13144C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0123095
- REMM: 0.012
- Frequency Data:
- gnomAD_G_AFR: 0.1310%
- gnomAD_G_AMR: 0.1409%
- gnomAD_G_EAS: 0.2131%
- gnomAD_G_NFE: 0.1200%
- gnomAD_G_SAS: 0.3066%
- Transcripts:
- GRIP1:ENST00000359742.9:c.136+11174C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0113762
- REMM: 0.011
- Frequency Data:
- No frequency data
- Transcripts:
- GRIP1:ENST00000359742.9:c.136+11243A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0090619
- REMM: 0.009
- Frequency Data:
- No frequency data
- Transcripts:
- GRIP1:ENST00000359742.9:c.136+14561T>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.00842222
- REMM: 0.008
- Frequency Data:
- No frequency data
- Transcripts:
- GRIP1:ENST00000359742.9:c.136+11287T>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.00814762
- REMM: 0.008
- Frequency Data:
- No frequency data
- Transcripts:
- GRIP1:ENST00000359742.9:c.136+13167C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.00891429
- REMM: 0.009
- Frequency Data:
- gnomAD_G_AFR: 0.4680%
- gnomAD_G_AMR: 0.5829%
- gnomAD_G_EAS: 0.7178%
- gnomAD_G_NFE: 0.4147%
- gnomAD_G_SAS: 0.5550%
- Transcripts:
- GRIP1:ENST00000359742.9:c.136+12848G>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.00570278
- REMM: 0.006
- Frequency Data:
- No frequency data
- Transcripts:
- GRIP1:ENST00000359742.9:c.136+12959A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.00383889
- REMM: 0.004
- Frequency Data:
- No frequency data
- Transcripts:
- GRIP1:ENST00000359742.9:c.136+12634A>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.00233333
- REMM: 0.002
- Frequency Data:
- No frequency data
- Transcripts:
- GRIP1:ENST00000359742.9:c.56-20773G>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0013
- REMM: 0.001
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.00112778
- REMM: 0.001
- Frequency Data:
- No frequency data
- Transcripts:
- GRIP1:ENST00000359742.9:c.1984+384G>A:p.(=)
- Pathogenicity Data:
- Best Score: 4.78968E-4
- REMM: 0.000
- Frequency Data:
- UK10K: 0.1190%
- gnomAD_G_AFR: 0.0361%
- gnomAD_G_AMR: 0.2095%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 0.1456%
- gnomAD_G_SAS: 0.2281%
- Transcripts:
- GRIP1:ENST00000359742.9:c.724+8409C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- gnomAD_G_AFR: 0.0289%
- gnomAD_G_AMR: 0.1896%
- gnomAD_G_EAS: 0.0194%
- gnomAD_G_NFE: 0.1059%
- gnomAD_G_SAS: 0.1662%
- Transcripts:
- GRIP1:ENST00000359742.9:c.419-1388A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- No frequency data
- Transcripts:
- GRIP1:ENST00000359742.9:c.273-323del:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- gnomAD_G_AFR: 0.0343%
- gnomAD_G_AMR: 0.2155%
- gnomAD_G_NFE: 0.2285%
- Transcripts:
- GRIP1:ENST00000359742.9:c.136+18615C>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- No frequency data
- Transcripts:
- GRIP1:ENST00000359742.9:c.56-9865G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- gnomAD_G_NFE: 0.0015%
- Proximity score 0.504 in interactome to RAD51C and phenotypic similarity 0.998 to Hereditary breast and/or ovarian cancer syndrome associated with RAD51C.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003002, Breast carcinoma
- HP:0006625, Multifocal breast carcinoma - HP:0003002, Breast carcinoma
- Known diseases:
- OMIM:613933 Acetyl-CoA carboxylase deficiency - autosomal recessive
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.274 (p=1.7E-1)
Phenotype Score: 0.504
Variant Score: 0.770
- Transcripts:
- ACACA:ENST00000616317.5:c.338+12367T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.882577
- REMM: 0.883
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.657551
- REMM: 0.658
- Frequency Data:
- No frequency data
AUTOSOMAL_DOMINANT
Exomiser Score: 0.072 (p=2.9E-1)
Phenotype Score: 0.252
Variant Score: 0.883
- Transcripts:
- ACACA:ENST00000616317.5:c.338+12367T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.882577
- REMM: 0.883
- Frequency Data:
- No frequency data
- Transcripts:
- ACACA:ENST00000616317.5:c.511A>G:p.(Met171Val)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- gnomAD_E_NFE: 0.0001%
- Transcripts:
- ACACA:ENST00000616317.5:c.5079+2165G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.722592
- REMM: 0.723
- Frequency Data:
- UK10K: 1.3753%
- gnomAD_G_AFR: 0.2360%
- gnomAD_G_AMR: 0.6344%
- gnomAD_G_NFE: 1.4529%
- gnomAD_G_SAS: 0.4983%
- Transcripts:
- ACACA:ENST00000616317.5:c.3121+2370G>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.29446
- REMM: 0.294
- Frequency Data:
- gnomAD_G_NFE: 0.0015%
- Transcripts:
- ACACA:ENST00000616317.5:c.39-9099_39-9098insT:p.(=)
- Pathogenicity Data:
- Best Score: 0.290413
- REMM: 0.290
- Frequency Data:
- No frequency data
- Transcripts:
- ACACA:ENST00000616317.5:c.339-20935del:p.(=)
- Pathogenicity Data:
- Best Score: 0.229296
- REMM: 0.229
- Frequency Data:
- No frequency data
- Transcripts:
- ACACA:ENST00000616317.5:c.38+22274C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.221352
- REMM: 0.221
- Frequency Data:
- UK10K: 0.0132%
- gnomAD_G_AMR: 0.0590%
- gnomAD_G_NFE: 0.0074%
- Pathogenicity Data:
- Best Score: 0.171043
- REMM: 0.171
- Frequency Data:
- gnomAD_G_AFR: 0.0511%
- gnomAD_G_AMR: 0.2519%
- gnomAD_G_EAS: 0.1880%
- gnomAD_G_NFE: 0.2172%
- Pathogenicity Data:
- Best Score: 0.171043
- REMM: 0.171
- Frequency Data:
- gnomAD_G_AFR: 0.2808%
- gnomAD_G_AMR: 0.3797%
- gnomAD_G_NFE: 0.7507%
- Pathogenicity Data:
- Best Score: 0.141701
- REMM: 0.142
- Frequency Data:
- No frequency data
- Transcripts:
- ACACA:ENST00000616317.5:c.339-20934del:p.(=)
- Pathogenicity Data:
- Best Score: 0.136538
- REMM: 0.137
- Frequency Data:
- No frequency data
- Transcripts:
- ACACA:ENST00000616317.5:c.38+16114_38+16121del:p.(=)
- Pathogenicity Data:
- Best Score: 0.125575
- REMM: 0.126
- Frequency Data:
- No frequency data
- Transcripts:
- ACACA:ENST00000616317.5:c.39-2588_39-2583del:p.(=)
- Pathogenicity Data:
- Best Score: 0.0546159
- REMM: 0.055
- Frequency Data:
- No frequency data
- Transcripts:
- ACACA:ENST00000616317.5:c.1330-723_1330-720del:p.(=)
- Pathogenicity Data:
- Best Score: 0.0539274
- REMM: 0.054
- Frequency Data:
- No frequency data
- Transcripts:
- ACACA:ENST00000616317.5:c.39-2588A>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0427738
- REMM: 0.043
- Frequency Data:
- No frequency data
- Transcripts:
- ACACA:ENST00000616317.5:c.38+15948_38+15950del:p.(=)
- Pathogenicity Data:
- Best Score: 0.0418675
- REMM: 0.042
- Frequency Data:
- No frequency data
- Transcripts:
- ACACA:ENST00000616317.5:c.38+16089A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0401024
- REMM: 0.040
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.0365833
- REMM: 0.037
- Frequency Data:
- No frequency data
- Transcripts:
- ACACA:ENST00000616317.5:c.38+7671C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.00118056
- REMM: 0.001
- Frequency Data:
- No frequency data
- Transcripts:
- ACACA:ENST00000616317.5:c.38+7534G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.001
- REMM: 0.001
- Frequency Data:
- No frequency data
- Transcripts:
- ACACA:ENST00000616317.5:c.38+7619T>C:p.(=)
- Pathogenicity Data:
- Best Score: 8.33333E-4
- REMM: 0.001
- Frequency Data:
- No frequency data
- Transcripts:
- ACACA:ENST00000616317.5:c.38+7615C>T:p.(=)
- Pathogenicity Data:
- Best Score: 3.33333E-4
- REMM: 0.000
- Frequency Data:
- No frequency data
- Transcripts:
- ACACA:ENST00000616317.5:c.4776+1367C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- No frequency data
- Transcripts:
- ACACA:ENST00000616317.5:c.38+7609T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- No frequency data
- Transcripts:
- ACACA:ENST00000616317.5:c.38+7602G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- No frequency data
- Transcripts:
- ACACA:ENST00000616317.5:c.38+7576G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- No frequency data
- Transcripts:
- ACACA:ENST00000616317.5:c.38+7568G>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- No frequency data
- Transcripts:
- ACACA:ENST00000616317.5:c.38+7562A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- No frequency data
- Transcripts:
- ACACA:ENST00000616317.5:c.38+7531G>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- No frequency data
- Phenotypic similarity 0.319 to mouse mutant involving MCPH1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0000063, decreased bone mineral density
- HP:0006625, Multifocal breast carcinoma - MP:0000063, decreased bone mineral density
- Proximity score 0.505 in interactome to SET and phenotypic similarity 0.643 to Intellectual developmental disorder, autosomal dominant 58 associated with SET.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003186, Inverted nipples
- HP:0006625, Multifocal breast carcinoma - HP:0003186, Inverted nipples
- Known diseases:
- OMIM:251200 Microcephaly 1, primary, autosomal recessive - autosomal recessive
- ORPHA:2512 Autosomal recessive primary microcephaly - autosomal recessive
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.267 (p=1.7E-1)
Phenotype Score: 0.505
Variant Score: 0.765
- Transcripts:
- MCPH1:ENST00000344683.10:c.114+347G>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.786566
- REMM: 0.787
- Frequency Data:
- gnomAD_G_AMR: 0.0065%
- gnomAD_G_NFE: 0.0059%
- Transcripts:
- MCPH1:ENST00000344683.10:c.2214+28571del:p.(=)
- Pathogenicity Data:
- Best Score: 0.783381
- REMM: 0.783
- Frequency Data:
- UK10K: 0.2380%
- gnomAD_G_AFR: 0.0337%
- gnomAD_G_AMR: 0.2156%
- gnomAD_G_EAS: 0.0578%
- gnomAD_G_NFE: 0.2469%
- gnomAD_G_SAS: 0.3108%
AUTOSOMAL_DOMINANT
Exomiser Score: 0.031 (p=3.6E-1)
Phenotype Score: 0.253
Variant Score: 0.786
- Transcripts:
- MCPH1:ENST00000344683.10:c.114+347G>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.786566
- REMM: 0.787
- Frequency Data:
- gnomAD_G_AMR: 0.0065%
- gnomAD_G_NFE: 0.0059%
- Transcripts:
- MCPH1:ENST00000344683.10:c.2215-57477del:p.(=)
- Pathogenicity Data:
- Best Score: 0.723641
- REMM: 0.724
- Frequency Data:
- No frequency data
- Transcripts:
- MCPH1:ENST00000344683.10:c.2214+16712A>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.722637
- REMM: 0.723
- Frequency Data:
- gnomAD_G_AMR: 0.1176%
- gnomAD_G_EAS: 0.0385%
- gnomAD_G_NFE: 0.0220%
- gnomAD_G_SAS: 0.1656%
- Transcripts:
- MCPH1:ENST00000344683.10::
- Pathogenicity Data:
- Best Score: 0.639357
- REMM: 0.639
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.621106
- REMM: 0.621
- Frequency Data:
- No frequency data
- Transcripts:
- MCPH1:ENST00000344683.10:c.2137-2930A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.632318
- REMM: 0.632
- Frequency Data:
- gnomAD_G_AMR: 0.0523%
- gnomAD_G_EAS: 0.0386%
- gnomAD_G_NFE: 0.0103%
- gnomAD_G_SAS: 0.1452%
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- gnomAD_E_AFR: 0.0060%
- gnomAD_E_AMR: 0.0134%
- gnomAD_E_NFE: 0.0042%
- gnomAD_E_SAS: 0.0881%
- gnomAD_G_AMR: 0.0523%
- gnomAD_G_EAS: 0.0386%
- gnomAD_G_NFE: 0.0103%
- gnomAD_G_SAS: 0.1451%
- Pathogenicity Data:
- Best Score: 0.810215
- REMM: 0.810
- Frequency Data:
- gnomAD_G_AFR: 1.3711%
- gnomAD_G_AMR: 0.7488%
- gnomAD_G_EAS: 0.5030%
- gnomAD_G_NFE: 0.5208%
- gnomAD_G_SAS: 0.8682%
- Transcripts:
- MCPH1:ENST00000344683.10:c.2214+30580del:p.(=)
- Pathogenicity Data:
- Best Score: 0.444578
- REMM: 0.445
- Frequency Data:
- No frequency data
- Transcripts:
- MCPH1:ENST00000344683.10:c.2214+14537G>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.441759
- REMM: 0.442
- Frequency Data:
- gnomAD_G_AMR: 0.0588%
- gnomAD_G_EAS: 0.0387%
- gnomAD_G_NFE: 0.0162%
- gnomAD_G_SAS: 0.1659%
- Transcripts:
- MCPH1:ENST00000344683.10:c.2215-50978G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.533028
- REMM: 0.533
- Frequency Data:
- UK10K: 0.8596%
- gnomAD_G_AFR: 0.2190%
- gnomAD_G_AMR: 0.6281%
- gnomAD_G_EAS: 0.0963%
- gnomAD_G_NFE: 1.0382%
- gnomAD_G_SAS: 1.1618%
- Transcripts:
- MCPH1:ENST00000344683.10:c.2215-54547C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.368373
- REMM: 0.368
- Frequency Data:
- gnomAD_G_AFR: 0.0234%
- gnomAD_G_NFE: 0.0030%
- Pathogenicity Data:
- Best Score: 0.29927
- REMM: 0.299
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.276062
- REMM: 0.276
- Frequency Data:
- No frequency data
- Transcripts:
- MCPH1:ENST00000344683.10::
- Pathogenicity Data:
- Best Score: 0.236151
- REMM: 0.236
- Frequency Data:
- No frequency data
- Transcripts:
- MCPH1:ENST00000344683.10:c.2214+5252T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.23151
- REMM: 0.232
- Frequency Data:
- gnomAD_G_AMR: 0.0143%
- gnomAD_G_EAS: 0.0199%
- gnomAD_G_NFE: 0.0045%
- gnomAD_G_SAS: 0.0637%
- Transcripts:
- MCPH1:ENST00000344683.10::
- Pathogenicity Data:
- Best Score: 0.196085
- REMM: 0.196
- Frequency Data:
- No frequency data
- Transcripts:
- MCPH1:ENST00000344683.10::
- Pathogenicity Data:
- Best Score: 0.192281
- REMM: 0.192
- Frequency Data:
- No frequency data
- Transcripts:
- MCPH1:ENST00000344683.10::
- Pathogenicity Data:
- Best Score: 0.17696
- REMM: 0.177
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.147122
- REMM: 0.147
- Frequency Data:
- No frequency data
- Transcripts:
- MCPH1:ENST00000344683.10::
- MCPH1:ENST00000635120.2::
- Pathogenicity Data:
- Best Score: 0.146915
- REMM: 0.147
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.138149
- REMM: 0.138
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.138149
- REMM: 0.138
- Frequency Data:
- No frequency data
- Transcripts:
- MCPH1:ENST00000344683.10:c.2214+5439G>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.137976
- REMM: 0.138
- Frequency Data:
- No frequency data
- Transcripts:
- MCPH1:ENST00000344683.10:c.2214+5868A>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.137072
- REMM: 0.137
- Frequency Data:
- gnomAD_G_NFE: 0.0025%
- Pathogenicity Data:
- Best Score: 0.133265
- REMM: 0.133
- Frequency Data:
- gnomAD_G_NFE: 0.0025%
- Transcripts:
- MCPH1:ENST00000344683.10:c.2214+5835A>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.128296
- REMM: 0.128
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.124306
- REMM: 0.124
- Frequency Data:
- gnomAD_G_NFE: 0.0029%
- Transcripts:
- MCPH1:ENST00000344683.10:c.2214+5870C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.11718
- REMM: 0.117
- Frequency Data:
- No frequency data
- Transcripts:
- MCPH1:ENST00000344683.10:c.2214+5611T>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.112348
- REMM: 0.112
- Frequency Data:
- gnomAD_G_NFE: 0.0040%
- Transcripts:
- MCPH1:ENST00000344683.10:c.2214+5836A>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.133522
- REMM: 0.134
- Frequency Data:
- gnomAD_G_AFR: 0.0969%
- gnomAD_G_AMR: 0.4777%
- gnomAD_G_EAS: 0.0723%
- gnomAD_G_NFE: 0.9003%
- gnomAD_G_SAS: 0.4986%
- Pathogenicity Data:
- Best Score: 0.146444
- REMM: 0.146
- Frequency Data:
- gnomAD_G_AFR: 0.1956%
- gnomAD_G_AMR: 0.5281%
- gnomAD_G_EAS: 0.1287%
- gnomAD_G_NFE: 1.3726%
- gnomAD_G_SAS: 0.4931%
- Transcripts:
- MCPH1:ENST00000344683.10:c.2214+5834G>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0844794
- REMM: 0.084
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.0801825
- REMM: 0.080
- Frequency Data:
- No frequency data
- Transcripts:
- MCPH1:ENST00000344683.10:c.2214+5426C>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0785687
- REMM: 0.079
- Frequency Data:
- gnomAD_G_AFR: 0.4039%
- gnomAD_G_AMR: 0.7668%
- gnomAD_G_EAS: 0.1952%
- gnomAD_G_NFE: 1.6569%
- gnomAD_G_SAS: 0.4704%
- Transcripts:
- MCPH1:ENST00000344683.10:c.2214+15514G>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.00661111
- REMM: 0.007
- Frequency Data:
- No frequency data
- Transcripts:
- MCPH1:ENST00000344683.10:c.2214+45100G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.001
- REMM: 0.001
- Frequency Data:
- gnomAD_G_AFR: 0.0096%
- gnomAD_G_EAS: 0.0579%
- gnomAD_G_NFE: 0.0162%
- gnomAD_G_SAS: 0.0207%
- Transcripts:
- MCPH1:ENST00000344683.10:c.233+8307C>T:p.(=)
- Pathogenicity Data:
- Best Score: 1.11111E-4
- REMM: 0.000
- Frequency Data:
- No frequency data
- Transcripts:
- MCPH1:ENST00000344683.10:c.2137-66T>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- gnomAD_E_AMR: 0.0135%
- gnomAD_E_NFE: 0.0048%
- gnomAD_E_SAS: 0.0885%
- gnomAD_G_AMR: 0.0523%
- gnomAD_G_EAS: 0.0386%
- gnomAD_G_NFE: 0.0103%
- gnomAD_G_SAS: 0.1453%
- Transcripts:
- MCPH1:ENST00000344683.10:c.*3864G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- UK10K: 0.9389%
- gnomAD_G_AFR: 0.1156%
- gnomAD_G_AMR: 0.3141%
- gnomAD_G_NFE: 0.7631%
- gnomAD_G_SAS: 0.0414%
- Transcripts:
- MCPH1:ENST00000344683.10::
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- gnomAD_G_AFR: 0.0073%
- gnomAD_G_AMR: 0.0066%
- gnomAD_G_NFE: 0.0029%
- gnomAD_G_SAS: 0.0208%
- Proximity score 0.502 in interactome to WRN and phenotypic similarity 0.936 to Werner syndrome associated with WRN.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003002, Breast carcinoma
- HP:0006625, Multifocal breast carcinoma - HP:0003002, Breast carcinoma
- Proximity score 0.502 in interactome to WRN and phenotypic similarity 0.324 to mouse mutant of WRN.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0010876, decreased bone volume
- HP:0006625, Multifocal breast carcinoma - MP:0010876, decreased bone volume
AUTOSOMAL_DOMINANT
Exomiser Score: 0.267 (p=1.7E-1)
Phenotype Score: 0.502
Variant Score: 0.768
- Pathogenicity Data:
- Best Score: 0.768368
- REMM: 0.768
- Frequency Data:
- No frequency data
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.171 (p=2.1E-1)
Phenotype Score: 0.502
Variant Score: 0.706
- Pathogenicity Data:
- Best Score: 0.768368
- REMM: 0.768
- Frequency Data:
- No frequency data
- Transcripts:
- TOP1MT:ENST00000329245.9:c.961-811_961-810del:p.(=)
- Pathogenicity Data:
- Best Score: 0.645506
- REMM: 0.646
- Frequency Data:
- gnomAD_G_AFR: 0.0040%
- gnomAD_G_NFE: 0.0145%
- Pathogenicity Data:
- Best Score: 0.602345
- REMM: 0.602
- Frequency Data:
- No frequency data
- Transcripts:
- TOP1MT:ENST00000329245.9:c.1189C>T:p.(Arg397Trp)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- gnomAD_E_NFE: 0.0041%
- gnomAD_E_SAS: 0.0035%
- gnomAD_G_AFR: 0.0024%
- Transcripts:
- TOP1MT:ENST00000329245.9::
- Pathogenicity Data:
- Best Score: 0.598856
- REMM: 0.599
- Frequency Data:
- gnomAD_G_AMR: 0.0872%
- gnomAD_G_NFE: 0.0067%
- Transcripts:
- TOP1MT:ENST00000329245.9:c.1753C>T:p.(Arg585Trp)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- gnomAD_E_AMR: 0.0067%
- gnomAD_E_EAS: 0.1159%
- gnomAD_E_NFE: 0.0043%
- gnomAD_E_SAS: 0.0023%
- gnomAD_G_AFR: 0.0024%
- gnomAD_G_AMR: 0.0065%
- gnomAD_G_EAS: 0.1926%
- gnomAD_G_NFE: 0.0074%
- Transcripts:
- TOP1MT:ENST00000329245.9:c.961-877T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.569831
- REMM: 0.570
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.585117
- REMM: 0.585
- Frequency Data:
- gnomAD_G_AFR: 0.1881%
- gnomAD_G_AMR: 0.0764%
- gnomAD_G_NFE: 0.0466%
- Transcripts:
- TOP1MT:ENST00000329245.9:c.961-807G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.525542
- REMM: 0.526
- Frequency Data:
- gnomAD_G_AFR: 0.0416%
- gnomAD_G_AMR: 0.1208%
- gnomAD_G_NFE: 0.2022%
- Transcripts:
- TOP1MT:ENST00000329245.9::
- Pathogenicity Data:
- Best Score: 0.483759
- REMM: 0.484
- Frequency Data:
- No frequency data
- Transcripts:
- TOP1MT:ENST00000329245.9::
- Pathogenicity Data:
- Best Score: 0.454227
- REMM: 0.454
- Frequency Data:
- gnomAD_G_AFR: 0.0213%
- gnomAD_G_AMR: 0.0795%
- gnomAD_G_NFE: 0.0120%
- Transcripts:
- TOP1MT:ENST00000329245.9::
- Pathogenicity Data:
- Best Score: 0.43503
- REMM: 0.435
- Frequency Data:
- No frequency data
- Transcripts:
- TOP1MT:ENST00000329245.9:c.961-825C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.417899
- REMM: 0.418
- Frequency Data:
- gnomAD_G_NFE: 0.0204%
- gnomAD_G_SAS: 0.2747%
- Pathogenicity Data:
- Best Score: 0.405042
- REMM: 0.405
- Frequency Data:
- gnomAD_G_AFR: 0.0035%
- gnomAD_G_AMR: 0.0330%
- gnomAD_G_EAS: 0.2165%
- gnomAD_G_NFE: 0.0238%
- Transcripts:
- TOP1MT:ENST00000329245.9:c.961-835C>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.344491
- REMM: 0.344
- Frequency Data:
- gnomAD_G_AFR: 0.1045%
- gnomAD_G_NFE: 0.0461%
- Pathogenicity Data:
- Best Score: 0.369417
- REMM: 0.369
- Frequency Data:
- gnomAD_G_AFR: 0.0680%
- gnomAD_G_AMR: 0.6999%
- gnomAD_G_EAS: 0.8152%
- gnomAD_G_NFE: 0.8535%
- gnomAD_G_SAS: 0.7752%
- Pathogenicity Data:
- Best Score: 0.627758
- REMM: 0.628
- Frequency Data:
- gnomAD_G_AFR: 0.0910%
- gnomAD_G_AMR: 0.9960%
- gnomAD_G_EAS: 1.6260%
- gnomAD_G_NFE: 0.8024%
- Transcripts:
- TOP1MT:ENST00000329245.9::
- Pathogenicity Data:
- Best Score: 0.330756
- REMM: 0.331
- Frequency Data:
- gnomAD_G_AFR: 0.1550%
- gnomAD_G_AMR: 0.1168%
- gnomAD_G_EAS: 0.9804%
- gnomAD_G_NFE: 0.0263%
- Transcripts:
- TOP1MT:ENST00000329245.9:c.960+933T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.25044
- REMM: 0.250
- Frequency Data:
- No frequency data
- Transcripts:
- TOP1MT:ENST00000329245.9:c.961-748_961-736del:p.(=)
- Pathogenicity Data:
- Best Score: 0.627264
- REMM: 0.627
- Frequency Data:
- gnomAD_G_AFR: 0.0655%
- gnomAD_G_AMR: 0.5832%
- gnomAD_G_EAS: 1.7021%
- gnomAD_G_NFE: 1.0287%
- gnomAD_G_SAS: 1.3889%
- Transcripts:
- TOP1MT:ENST00000329245.9:c.960+298C>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.136021
- REMM: 0.136
- Frequency Data:
- No frequency data
- Transcripts:
- TOP1MT:ENST00000329245.9:c.960+295T>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.127962
- REMM: 0.128
- Frequency Data:
- No frequency data
- Transcripts:
- TOP1MT:ENST00000329245.9::
- Pathogenicity Data:
- Best Score: 0.0943
- REMM: 0.094
- Frequency Data:
- No frequency data
- Transcripts:
- TOP1MT:ENST00000329245.9:c.484-283C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0383639
- REMM: 0.038
- Frequency Data:
- UK10K: 0.5157%
- gnomAD_G_AFR: 0.0794%
- gnomAD_G_AMR: 0.0980%
- gnomAD_G_EAS: 0.0387%
- gnomAD_G_NFE: 0.9414%
- gnomAD_G_SAS: 0.4973%
- Proximity score 0.501 in interactome to CCDC141 and phenotypic similarity 0.620 to Kallmann syndrome associated with CCDC141.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003187, Breast hypoplasia
- HP:0006625, Multifocal breast carcinoma - HP:0003187, Breast hypoplasia
- Known diseases:
- OMIM:614076 Hermansky-Pudlak syndrome 7 - autosomal recessive
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.266 (p=1.7E-1)
Phenotype Score: 0.501
Variant Score: 0.769
- Pathogenicity Data:
- Best Score: 0.769198
- REMM: 0.769
- Frequency Data:
- No frequency data
AUTOSOMAL_DOMINANT
Exomiser Score: 0.003 (p=6.0E-1)
Phenotype Score: 0.251
Variant Score: 0.530
- Pathogenicity Data:
- Best Score: 0.529884
- REMM: 0.530
- Frequency Data:
- gnomAD_G_NFE: 0.0015%
- Transcripts:
- DTNBP1:ENST00000344537.10:c.511+23699G>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.669667
- REMM: 0.670
- Frequency Data:
- No frequency data
- Transcripts:
- DTNBP1:ENST00000344537.10:c.56+4440A>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.782657
- REMM: 0.783
- Frequency Data:
- UK10K: 1.0844%
- gnomAD_G_AFR: 0.2141%
- gnomAD_G_AMR: 0.9159%
- gnomAD_G_NFE: 0.8703%
- gnomAD_G_SAS: 0.1037%
- Pathogenicity Data:
- Best Score: 0.430346
- REMM: 0.430
- Frequency Data:
- No frequency data
- Transcripts:
- DTNBP1:ENST00000344537.10:c.512-1265del:p.(=)
- Pathogenicity Data:
- Best Score: 0.411208
- REMM: 0.411
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.0762698
- REMM: 0.076
- Frequency Data:
- No frequency data
- Transcripts:
- DTNBP1:ENST00000344537.10:c.512-10089C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.00366667
- REMM: 0.004
- Frequency Data:
- gnomAD_G_AFR: 0.0169%
- gnomAD_G_AMR: 0.0131%
- gnomAD_G_NFE: 0.0176%
- Transcripts:
- DTNBP1:ENST00000344537.10:c.511+16794G>A:p.(=)
- Pathogenicity Data:
- Best Score: 2.0E-4
- REMM: 0.000
- Frequency Data:
- gnomAD_G_AFR: 0.0048%
- gnomAD_G_NFE: 0.0015%
- Transcripts:
- DTNBP1:ENST00000344537.10:c.511+11581C>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- No frequency data
- Phenotypic similarity 0.492 to Fibrochondrogenesis associated with COL11A1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0000774, Narrow chest
- HP:0006625, Multifocal breast carcinoma - HP:0000774, Narrow chest
- Phenotypic similarity 0.326 to mouse mutant involving COL11A1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0006432, abnormal costal cartilage morphology
- HP:0006625, Multifocal breast carcinoma - MP:0006432, abnormal costal cartilage morphology
- Proximity score 0.502 in interactome to ITGA3 and phenotypic similarity 0.603 to Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome associated with ITGA3.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0000771, Gynecomastia
- HP:0006625, Multifocal breast carcinoma - HP:0000771, Gynecomastia
- Known diseases:
- OMIM:154780 Marshall syndrome - autosomal dominant
- OMIM:228520 Fibrochondrogenesis 1 - autosomal recessive
- OMIM:604841 Stickler syndrome, type II - autosomal dominant
- OMIM:618533 Deafness, autosomal dominant 37 - autosomal dominant
- ORPHA:2021 Fibrochondrogenesis - autosomal recessive
- ORPHA:560 Marshall syndrome - autosomal dominant
- ORPHA:90654 Stickler syndrome type 2 - autosomal dominant
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.254 (p=1.7E-1)
Phenotype Score: 0.502
Variant Score: 0.762
- Phenotype matches to diseases consistent with this MOI:
- Phenotypic similarity 0.492 to ORPHA:2021 Fibrochondrogenesis
- Phenotypic similarity 0.491 to OMIM:228520 Fibrochondrogenesis 1
- Transcripts:
- COL11A1:ENST00000370096.9:c.4032G>A:p.(=)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- UK10K: 0.2909%
- gnomAD_E_AFR: 0.0120%
- gnomAD_E_AMR: 0.0671%
- gnomAD_E_EAS: 0.0152%
- gnomAD_E_NFE: 0.1349%
- gnomAD_E_SAS: 0.1032%
- gnomAD_G_AFR: 0.0072%
- gnomAD_G_AMR: 0.0327%
- gnomAD_G_EAS: 0.0386%
- gnomAD_G_NFE: 0.1118%
- gnomAD_G_SAS: 0.0828%
- Transcripts:
- COL11A1:ENST00000370096.9:c.4303-1646T>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.796484
- REMM: 0.796
- Frequency Data:
- UK10K: 0.2909%
- gnomAD_G_AFR: 0.0048%
- gnomAD_G_AMR: 0.0262%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 0.1117%
- gnomAD_G_SAS: 0.0828%
AUTOSOMAL_DOMINANT
Exomiser Score: 0.001 (p=7.2E-1)
Phenotype Score: 0.502
Variant Score: 0.124
- Pathogenicity Data:
- Best Score: 0.123878
- REMM: 0.124
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.368337
- REMM: 0.368
- Frequency Data:
- gnomAD_G_AFR: 0.9821%
- gnomAD_G_AMR: 0.4357%
- gnomAD_G_EAS: 0.3653%
- gnomAD_G_NFE: 0.5570%
- gnomAD_G_SAS: 0.3800%
- Transcripts:
- COL11A1:ENST00000370096.9:c.990+69C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.627147
- REMM: 0.627
- Frequency Data:
- UK10K: 1.8249%
- gnomAD_E_AFR: 0.1992%
- gnomAD_E_AMR: 0.4912%
- gnomAD_E_EAS: 0.0055%
- gnomAD_E_NFE: 1.6610%
- gnomAD_E_SAS: 1.7961%
- gnomAD_G_AFR: 0.2309%
- gnomAD_G_AMR: 0.6344%
- gnomAD_G_NFE: 1.5175%
- gnomAD_G_SAS: 1.5114%
- Transcripts:
- COL11A1:ENST00000370096.9:c.3169-5665T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.690791
- REMM: 0.691
- Frequency Data:
- UK10K: 1.6133%
- gnomAD_G_AFR: 0.2332%
- gnomAD_G_AMR: 0.6339%
- gnomAD_G_NFE: 1.5203%
- gnomAD_G_SAS: 1.8634%
- Pathogenicity Data:
- Best Score: 0.0986024
- REMM: 0.099
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.264778
- REMM: 0.265
- Frequency Data:
- UK10K: 1.8117%
- gnomAD_G_AFR: 0.2286%
- gnomAD_G_AMR: 0.6218%
- gnomAD_G_NFE: 1.4878%
- gnomAD_G_SAS: 1.0973%
- Transcripts:
- COL11A1:ENST00000370096.9:c.3276+781T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.0392095
- REMM: 0.039
- Frequency Data:
- No frequency data
- Transcripts:
- COL11A1:ENST00000370096.9:c.4087-4575T>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.00245833
- REMM: 0.002
- Frequency Data:
- gnomAD_G_NFE: 0.0059%
- gnomAD_G_SAS: 0.0207%
- Transcripts:
- COL11A1:ENST00000370096.9:c.3600+1122T>C:p.(=)
- Pathogenicity Data:
- Best Score: 6.0E-4
- REMM: 0.001
- Frequency Data:
- No frequency data
- Transcripts:
- COL11A1:ENST00000370096.9:c.3600+5246G>A:p.(=)
- Pathogenicity Data:
- Best Score: 4.5E-4
- REMM: 0.000
- Frequency Data:
- No frequency data
- Transcripts:
- COL11A1:ENST00000370096.9:c.3276+878G>A:p.(=)
- Pathogenicity Data:
- Best Score: 2.0E-4
- REMM: 0.000
- Frequency Data:
- No frequency data
- Transcripts:
- COL11A1:ENST00000370096.9:c.4608+21G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- UK10K: 0.0529%
- gnomAD_E_AFR: 0.0030%
- gnomAD_E_AMR: 0.0381%
- gnomAD_E_NFE: 0.0261%
- gnomAD_E_SAS: 0.0267%
- gnomAD_G_AFR: 0.0024%
- gnomAD_G_AMR: 0.0196%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 0.0294%
- gnomAD_G_SAS: 0.0207%
- Transcripts:
- COL11A1:ENST00000370096.9:c.106+3310A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- UK10K: 0.2645%
- gnomAD_G_AFR: 0.0144%
- gnomAD_G_AMR: 0.0262%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 0.1162%
- gnomAD_G_SAS: 0.1244%
- Phenotypic similarity 0.643 to Congenital disorder of glycosylation, type Iq associated with SRD5A3.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003186, Inverted nipples
- HP:0006625, Multifocal breast carcinoma - HP:0003186, Inverted nipples
- Proximity score 0.516 in interactome to LHB and phenotypic similarity 0.614 to Hypogonadotropic hypogonadism 23 with or without anosmia associated with LHB.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0000771, Gynecomastia
- HP:0006625, Multifocal breast carcinoma - HP:0000771, Gynecomastia
- Known diseases:
- OMIM:612379 Congenital disorder of glycosylation, type Iq - autosomal recessive
- OMIM:612713 Kahrizi syndrome - autosomal recessive
- ORPHA:324737 SRD5A3-CDG - autosomal recessive
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.252 (p=1.7E-1)
Phenotype Score: 0.643
Variant Score: 0.601
- Phenotype matches to diseases consistent with this MOI:
- Phenotypic similarity 0.643 to OMIM:612379 Congenital disorder of glycosylation, type Iq
- Phenotypic similarity 0.460 to OMIM:612713 Kahrizi syndrome
- Transcripts:
- SRD5A3:ENST00000264228.9:c.221+5319T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.697051
- REMM: 0.697
- Frequency Data:
- UK10K: 0.1058%
- gnomAD_E_AFR: 0.0288%
- gnomAD_E_AMR: 0.0781%
- gnomAD_E_EAS: 0.0090%
- gnomAD_E_NFE: 0.0871%
- gnomAD_E_SAS: 0.3497%
- gnomAD_G_AFR: 0.0529%
- gnomAD_G_AMR: 0.1633%
- gnomAD_G_NFE: 0.0956%
- gnomAD_G_SAS: 0.3314%
- Transcripts:
- SRD5A3:ENST00000264228.9::
- Pathogenicity Data:
- Best Score: 0.544905
- REMM: 0.545
- Frequency Data:
- No frequency data
AUTOSOMAL_DOMINANT
Exomiser Score: 0.004 (p=5.8E-1)
Phenotype Score: 0.258
Variant Score: 0.545
- Transcripts:
- SRD5A3:ENST00000264228.9::
- Pathogenicity Data:
- Best Score: 0.544905
- REMM: 0.545
- Frequency Data:
- No frequency data
- Transcripts:
- SRD5A3:ENST00000264228.9::
- Pathogenicity Data:
- Best Score: 0.53166
- REMM: 0.532
- Frequency Data:
- No frequency data
- Transcripts:
- SRD5A3:ENST00000264228.9::
- Pathogenicity Data:
- Best Score: 0.331349
- REMM: 0.331
- Frequency Data:
- gnomAD_G_AFR: 0.0549%
- gnomAD_G_NFE: 0.0063%
- Transcripts:
- SRD5A3:ENST00000264228.9::
- Pathogenicity Data:
- Best Score: 0.239355
- REMM: 0.239
- Frequency Data:
- No frequency data
- Transcripts:
- SRD5A3:ENST00000264228.9::
- Pathogenicity Data:
- Best Score: 0.233474
- REMM: 0.233
- Frequency Data:
- No frequency data
- Transcripts:
- SRD5A3:ENST00000264228.9::
- Pathogenicity Data:
- Best Score: 0.213336
- REMM: 0.213
- Frequency Data:
- No frequency data
- Transcripts:
- SRD5A3:ENST00000264228.9::
- Pathogenicity Data:
- Best Score: 0.324362
- REMM: 0.324
- Frequency Data:
- gnomAD_G_AFR: 0.5387%
- gnomAD_G_AMR: 0.5285%
- gnomAD_G_EAS: 0.0198%
- gnomAD_G_NFE: 0.5659%
- gnomAD_G_SAS: 1.3215%
- Transcripts:
- SRD5A3:ENST00000264228.9::
- Pathogenicity Data:
- Best Score: 0.1448
- REMM: 0.145
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.0190821
- REMM: 0.019
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.0057369
- REMM: 0.006
- Frequency Data:
- No frequency data
- Transcripts:
- SRD5A3:ENST00000264228.9::
- Pathogenicity Data:
- Best Score: 0.00197619
- REMM: 0.002
- Frequency Data:
- UK10K: 0.7670%
- gnomAD_G_AFR: 0.6371%
- gnomAD_G_AMR: 0.8720%
- gnomAD_G_EAS: 0.0390%
- gnomAD_G_NFE: 0.7860%
- gnomAD_G_SAS: 1.8947%
- Transcripts:
- SRD5A3:ENST00000264228.9::
- Pathogenicity Data:
- Best Score: 8.47222E-4
- REMM: 0.001
- Frequency Data:
- UK10K: 0.7670%
- gnomAD_G_AFR: 0.2185%
- gnomAD_G_AMR: 0.8546%
- gnomAD_G_EAS: 0.0391%
- gnomAD_G_NFE: 0.7686%
- gnomAD_G_SAS: 1.8773%
- Transcripts:
- SRD5A3:ENST00000264228.9:c.364+1200G>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- gnomAD_G_AFR: 0.0810%
- gnomAD_G_AMR: 0.0149%
- gnomAD_G_EAS: 0.0434%
- gnomAD_G_NFE: 0.0232%
- gnomAD_G_SAS: 0.0484%
- Phenotypic similarity 0.368 to mouse mutant involving CDK5RAP2.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0000160, kyphosis
- HP:0006625, Multifocal breast carcinoma - MP:0000160, kyphosis
- Proximity score 0.503 in interactome to ALMS1 and phenotypic similarity 0.614 to Alstrom syndrome associated with ALMS1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0000771, Gynecomastia
- HP:0006625, Multifocal breast carcinoma - HP:0000771, Gynecomastia
- Known diseases:
- OMIM:604804 Microcephaly 3, primary, autosomal recessive - autosomal recessive
- ORPHA:2512 Autosomal recessive primary microcephaly - autosomal recessive
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.241 (p=1.8E-1)
Phenotype Score: 0.503
Variant Score: 0.753
- Transcripts:
- CDK5RAP2:ENST00000349780.9:c.4727-271C>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.930657
- REMM: 0.931
- Frequency Data:
- UK10K: 0.0397%
- gnomAD_E_AMR: 0.0389%
- gnomAD_E_NFE: 0.0437%
- gnomAD_E_SAS: 0.1188%
- gnomAD_G_AFR: 0.0024%
- gnomAD_G_AMR: 0.0327%
- gnomAD_G_NFE: 0.0368%
- gnomAD_G_SAS: 0.0830%
- Transcripts:
- CDK5RAP2:ENST00000349780.9:c.923C>T:p.(Thr308Ile)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- UK10K: 0.0132%
- gnomAD_E_AFR: 0.0030%
- gnomAD_E_AMR: 0.0246%
- gnomAD_E_NFE: 0.0273%
- gnomAD_E_SAS: 0.1032%
- gnomAD_G_AFR: 0.0024%
- gnomAD_G_AMR: 0.0327%
- gnomAD_G_NFE: 0.0323%
- gnomAD_G_SAS: 0.0830%
AUTOSOMAL_DOMINANT
Exomiser Score: 0.000 (p=8.1E-1)
Phenotype Score: 0.251
Variant Score: 0.316
- Transcripts:
- CDK5RAP2:ENST00000349780.9:c.1312-5226A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.315855
- REMM: 0.316
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.368977
- REMM: 0.369
- Frequency Data:
- No frequency data
- Transcripts:
- CDK5RAP2:ENST00000349780.9::
- Pathogenicity Data:
- Best Score: 0.329176
- REMM: 0.329
- Frequency Data:
- No frequency data
- Transcripts:
- CDK5RAP2:ENST00000349780.9:c.662+1167C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0462909
- REMM: 0.046
- Frequency Data:
- UK10K: 0.0264%
- gnomAD_G_AFR: 0.0096%
- gnomAD_G_AMR: 0.0327%
- gnomAD_G_NFE: 0.0338%
- gnomAD_G_SAS: 0.0829%
- Pathogenicity Data:
- Best Score: 0.0263806
- REMM: 0.026
- Frequency Data:
- No frequency data
- Transcripts:
- CDK5RAP2:ENST00000349780.9:c.3148+1804A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- UK10K: 0.0264%
- gnomAD_G_AFR: 0.0024%
- gnomAD_G_AMR: 0.0327%
- gnomAD_G_NFE: 0.0367%
- gnomAD_G_SAS: 0.0828%
- Phenotypic similarity 0.444 to Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome associated with TRIO.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0000767, Pectus excavatum
- HP:0006625, Multifocal breast carcinoma - HP:0000767, Pectus excavatum
- Proximity score 0.503 in interactome to ARHGAP31 and phenotypic similarity 0.607 to Adams-Oliver syndrome 1 associated with ARHGAP31.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0002558, Supernumerary nipple
- HP:0006625, Multifocal breast carcinoma - HP:0002558, Supernumerary nipple
- Known diseases:
- OMIM:617061 Intellectual developmental disorder, autosomal dominant 44, with microcephaly - autosomal dominant
- OMIM:618825 Intellectual developmental disorder, autosomal dominant 63, with macrocephaly - autosomal dominant
- ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome - autosomal dominant
AUTOSOMAL_DOMINANT
Exomiser Score: 0.240 (p=1.8E-1)
Phenotype Score: 0.503
Variant Score: 0.752
- Phenotype matches to diseases consistent with this MOI:
- Phenotypic similarity 0.444 to ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
- Phenotypic similarity 0.434 to OMIM:617061 Intellectual developmental disorder, autosomal dominant 44, with microcephaly
- Transcripts:
- TRIO:ENST00000344204.9:c.2392-1946A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.753823
- REMM: 0.754
- Frequency Data:
- gnomAD_G_NFE: 0.0176%
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.035 (p=3.5E-1)
Phenotype Score: 0.251
Variant Score: 0.802
- Transcripts:
- TRIO:ENST00000344204.9:c.158-59858C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.928634
- REMM: 0.929
- Frequency Data:
- UK10K: 0.2645%
- gnomAD_G_AFR: 0.0434%
- gnomAD_G_AMR: 0.6744%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 0.3499%
- gnomAD_G_SAS: 0.1453%
- Transcripts:
- TRIO:ENST00000344204.9:c.157+5098G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.84579
- REMM: 0.846
- Frequency Data:
- UK10K: 0.2645%
- gnomAD_G_AFR: 0.0409%
- gnomAD_G_AMR: 0.2940%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 0.3528%
- gnomAD_G_SAS: 0.1450%
- Pathogenicity Data:
- Best Score: 0.744933
- REMM: 0.745
- Frequency Data:
- gnomAD_G_NFE: 0.0162%
- Transcripts:
- TRIO:ENST00000344204.9:c.157+7024T>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.715752
- REMM: 0.716
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.689586
- REMM: 0.690
- Frequency Data:
- No frequency data
- Transcripts:
- TRIO:ENST00000344204.9:c.8210+130C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.680316
- REMM: 0.680
- Frequency Data:
- UK10K: 0.0264%
- gnomAD_E_AFR: 0.0033%
- gnomAD_E_AMR: 0.0237%
- gnomAD_E_EAS: 0.0084%
- gnomAD_E_NFE: 0.0369%
- gnomAD_E_SAS: 0.0768%
- gnomAD_G_AFR: 0.0048%
- gnomAD_G_AMR: 0.0392%
- gnomAD_G_NFE: 0.0470%
- Transcripts:
- TRIO:ENST00000344204.9:c.6929G>T:p.(Gly2310Val)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- gnomAD_E_NFE: 0.0156%
- gnomAD_E_SAS: 0.0771%
- gnomAD_G_AFR: 0.0049%
- gnomAD_G_AMR: 0.0338%
- gnomAD_G_NFE: 0.0272%
- Transcripts:
- TRIO:ENST00000344204.9:c.3216+1680A>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.686382
- REMM: 0.686
- Frequency Data:
- UK10K: 0.9918%
- gnomAD_G_AFR: 0.1443%
- gnomAD_G_AMR: 0.0980%
- gnomAD_G_NFE: 0.8188%
- gnomAD_G_SAS: 0.0207%
- Transcripts:
- TRIO:ENST00000344204.9:c.158-37033G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.528384
- REMM: 0.528
- Frequency Data:
- gnomAD_G_NFE: 0.0162%
- Transcripts:
- TRIO:ENST00000344204.9:c.8333-1690del:p.(=)
- Pathogenicity Data:
- Best Score: 0.473763
- REMM: 0.474
- Frequency Data:
- No frequency data
- Transcripts:
- TRIO:ENST00000344204.9:c.8332+1410C>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.385208
- REMM: 0.385
- Frequency Data:
- No frequency data
- Transcripts:
- TRIO:ENST00000344204.9:c.2046+10614T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.381899
- REMM: 0.382
- Frequency Data:
- gnomAD_G_AFR: 0.3172%
- gnomAD_G_AMR: 0.4282%
- gnomAD_G_EAS: 0.3106%
- gnomAD_G_NFE: 0.3460%
- gnomAD_G_SAS: 0.3180%
- Transcripts:
- TRIO:ENST00000344204.9:c.5204-5508T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.327338
- REMM: 0.327
- Frequency Data:
- gnomAD_G_NFE: 0.0044%
- Pathogenicity Data:
- Best Score: 0.235252
- REMM: 0.235
- Frequency Data:
- No frequency data
- Transcripts:
- TRIO:ENST00000344204.9::
- Pathogenicity Data:
- Best Score: 0.389595
- REMM: 0.390
- Frequency Data:
- gnomAD_G_AFR: 0.2889%
- gnomAD_G_AMR: 0.9227%
- gnomAD_G_EAS: 0.2019%
- gnomAD_G_NFE: 0.7244%
- gnomAD_G_SAS: 1.5044%
- Transcripts:
- TRIO:ENST00000344204.9:c.158-6822G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.184961
- REMM: 0.185
- Frequency Data:
- gnomAD_G_AFR: 0.0048%
- gnomAD_G_AMR: 0.0523%
- gnomAD_G_NFE: 0.0338%
- gnomAD_G_SAS: 0.0207%
- Transcripts:
- TRIO:ENST00000344204.9::
- Pathogenicity Data:
- Best Score: 0.14291
- REMM: 0.143
- Frequency Data:
- gnomAD_G_AFR: 1.1180%
- gnomAD_G_AMR: 1.1294%
- gnomAD_G_EAS: 1.3441%
- gnomAD_G_NFE: 1.1604%
- gnomAD_G_SAS: 0.6173%
- Pathogenicity Data:
- Best Score: 0.0548325
- REMM: 0.055
- Frequency Data:
- gnomAD_G_AFR: 0.0475%
- gnomAD_G_AMR: 0.0478%
- gnomAD_G_NFE: 0.1037%
- Transcripts:
- TRIO:ENST00000344204.9:c.4312-600_4312-599insT:p.(=)
- Pathogenicity Data:
- Best Score: 0.0548325
- REMM: 0.055
- Frequency Data:
- gnomAD_G_AFR: 0.0554%
- gnomAD_G_AMR: 0.0955%
- gnomAD_G_NFE: 0.1037%
- gnomAD_G_SAS: 0.1548%
- Transcripts:
- TRIO:ENST00000344204.9:c.5913-105A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0347056
- REMM: 0.035
- Frequency Data:
- UK10K: 0.0132%
- gnomAD_E_AFR: 0.0043%
- gnomAD_E_AMR: 0.0612%
- gnomAD_E_NFE: 0.0425%
- gnomAD_E_SAS: 0.0682%
- gnomAD_G_AFR: 0.0048%
- gnomAD_G_AMR: 0.0458%
- gnomAD_G_NFE: 0.0441%
- gnomAD_G_SAS: 0.0207%
- Transcripts:
- TRIO:ENST00000344204.9:c.158-53340T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.0100798
- REMM: 0.010
- Frequency Data:
- gnomAD_G_AFR: 0.0024%
- Transcripts:
- TRIO:ENST00000344204.9::
- Pathogenicity Data:
- Best Score: 0.00611111
- REMM: 0.006
- Frequency Data:
- gnomAD_G_NFE: 0.0044%
- Transcripts:
- TRIO:ENST00000344204.9:c.347+298A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.00417183
- REMM: 0.004
- Frequency Data:
- gnomAD_G_AFR: 0.0048%
- gnomAD_G_AMR: 0.0523%
- gnomAD_G_NFE: 0.0338%
- gnomAD_G_SAS: 0.0207%
- Transcripts:
- TRIO:ENST00000344204.9:c.158-39956T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.00370833
- REMM: 0.004
- Frequency Data:
- UK10K: 0.2777%
- gnomAD_G_AFR: 0.0433%
- gnomAD_G_AMR: 0.6797%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 0.3469%
- gnomAD_G_SAS: 0.1243%
- Transcripts:
- TRIO:ENST00000344204.9:c.2047-10464C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.00235238
- REMM: 0.002
- Frequency Data:
- gnomAD_G_NFE: 0.0015%
- Transcripts:
- TRIO:ENST00000344204.9:c.158-48756G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0014
- REMM: 0.001
- Frequency Data:
- gnomAD_G_AFR: 0.0024%
- gnomAD_G_NFE: 0.0118%
- Transcripts:
- TRIO:ENST00000344204.9:c.541-625C>T:p.(=)
- Pathogenicity Data:
- Best Score: 4.0E-4
- REMM: 0.000
- Frequency Data:
- gnomAD_G_AFR: 0.0048%
- gnomAD_G_AMR: 0.0523%
- gnomAD_G_NFE: 0.0368%
- gnomAD_G_SAS: 0.0208%
- Transcripts:
- TRIO:ENST00000344204.9:c.157+55340T>C:p.(=)
- Pathogenicity Data:
- Best Score: 2.5E-4
- REMM: 0.000
- Frequency Data:
- No frequency data
- Phenotypic similarity 0.300 to mouse mutant involving CDC73.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0000454, abnormal jaw morphology
- HP:0006625, Multifocal breast carcinoma - MP:0000454, abnormal jaw morphology
- Proximity score 0.503 in interactome to MEN1 and phenotypic similarity 0.630 to Pituitary gigantism associated with MEN1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0100829, Galactorrhea
- HP:0006625, Multifocal breast carcinoma - HP:0100829, Galactorrhea
- Known diseases:
- OMIM:145000 Hyperparathyroidism, familial primary - autosomal dominant
- OMIM:145001 Parathyroid adenoma with cystic changes - autosomal dominant
- OMIM:608266 Parathyroid carcinoma - autosomal dominant
- ORPHA:143 Parathyroid carcinoma (unconfirmed)
- ORPHA:99879 Familial isolated hyperparathyroidism - autosomal dominant
- ORPHA:99880 Hyperparathyroidism-jaw tumor syndrome - autosomal dominant
AUTOSOMAL_DOMINANT
Exomiser Score: 0.229 (p=1.8E-1)
Phenotype Score: 0.503
Variant Score: 0.746
- Transcripts:
- CDC73:ENST00000367435.5:c.729+1820G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.750409
- REMM: 0.750
- Frequency Data:
- UK10K: 0.0397%
- gnomAD_G_AFR: 0.0048%
- gnomAD_G_AMR: 0.0131%
- gnomAD_G_NFE: 0.0441%
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.034 (p=3.6E-1)
Phenotype Score: 0.251
Variant Score: 0.796
- Transcripts:
- CDC73:ENST00000367435.5:c.973-555T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.881362
- REMM: 0.881
- Frequency Data:
- UK10K: 0.0397%
- gnomAD_G_AFR: 0.0048%
- gnomAD_G_AMR: 0.2550%
- gnomAD_G_NFE: 0.0765%
- gnomAD_G_SAS: 0.0207%
- Transcripts:
- CDC73:ENST00000367435.5:c.729+1820G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.750409
- REMM: 0.750
- Frequency Data:
- UK10K: 0.0397%
- gnomAD_G_AFR: 0.0048%
- gnomAD_G_AMR: 0.0131%
- gnomAD_G_NFE: 0.0441%
- Transcripts:
- CDC73:ENST00000367435.5:c.730-2138T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.635197
- REMM: 0.635
- Frequency Data:
- gnomAD_G_NFE: 0.0015%
- Transcripts:
- CDC73:ENST00000367435.5::
- Pathogenicity Data:
- Best Score: 0.545435
- REMM: 0.545
- Frequency Data:
- UK10K: 0.0397%
- gnomAD_G_AFR: 0.0048%
- gnomAD_G_AMR: 0.2548%
- gnomAD_G_NFE: 0.0779%
- gnomAD_G_SAS: 0.0207%
- Transcripts:
- CDC73:ENST00000367435.5:c.828+869del:p.(=)
- Pathogenicity Data:
- Best Score: 0.587396
- REMM: 0.587
- Frequency Data:
- gnomAD_G_AFR: 0.1256%
- gnomAD_G_AMR: 0.6838%
- gnomAD_G_NFE: 0.7262%
- gnomAD_G_SAS: 1.1269%
- Transcripts:
- CDC73:ENST00000367435.5::
- Pathogenicity Data:
- Best Score: 0.423592
- REMM: 0.424
- Frequency Data:
- gnomAD_G_AFR: 0.1603%
- gnomAD_G_AMR: 0.1280%
- gnomAD_G_EAS: 0.2496%
- gnomAD_G_NFE: 0.1659%
- gnomAD_G_SAS: 0.2561%
- Pathogenicity Data:
- Best Score: 0.30452
- REMM: 0.305
- Frequency Data:
- No frequency data
- Transcripts:
- CDC73:ENST00000367435.5:c.972+9587C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.270368
- REMM: 0.270
- Frequency Data:
- No frequency data
- Transcripts:
- CDC73:ENST00000367435.5:c.972+9769T>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.261685
- REMM: 0.262
- Frequency Data:
- No frequency data
- Transcripts:
- CDC73:ENST00000367435.5:c.972+9762_972+9763del:p.(=)
- Pathogenicity Data:
- Best Score: 0.257829
- REMM: 0.258
- Frequency Data:
- No frequency data
- Transcripts:
- CDC73:ENST00000367435.5:c.972+9233_972+9236del:p.(=)
- Pathogenicity Data:
- Best Score: 0.241362
- REMM: 0.241
- Frequency Data:
- No frequency data
- Transcripts:
- CDC73:ENST00000367435.5:c.972+9854_972+9874del:p.(=)
- Pathogenicity Data:
- Best Score: 0.230507
- REMM: 0.231
- Frequency Data:
- No frequency data
- Transcripts:
- CDC73:ENST00000367435.5:c.972+9833A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.228212
- REMM: 0.228
- Frequency Data:
- gnomAD_G_NFE: 0.0016%
- Transcripts:
- CDC73:ENST00000367435.5:c.972+9272_972+9287del:p.(=)
- Pathogenicity Data:
- Best Score: 0.223421
- REMM: 0.223
- Frequency Data:
- No frequency data
- Transcripts:
- CDC73:ENST00000367435.5:c.972+9639C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.208096
- REMM: 0.208
- Frequency Data:
- gnomAD_G_AMR: 0.4717%
- Transcripts:
- CDC73:ENST00000367435.5:c.972+9821A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.191418
- REMM: 0.191
- Frequency Data:
- gnomAD_G_AFR: 0.0765%
- gnomAD_G_AMR: 0.2014%
- gnomAD_G_EAS: 0.1342%
- gnomAD_G_NFE: 0.1446%
- gnomAD_G_SAS: 0.0946%
- Transcripts:
- CDC73:ENST00000367435.5::
- Pathogenicity Data:
- Best Score: 0.17256
- REMM: 0.173
- Frequency Data:
- No frequency data
- Transcripts:
- CDC73:ENST00000367435.5::
- Pathogenicity Data:
- Best Score: 0.17256
- REMM: 0.173
- Frequency Data:
- No frequency data
- Transcripts:
- CDC73:ENST00000367435.5:c.972+9613C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.199882
- REMM: 0.200
- Frequency Data:
- gnomAD_G_AFR: 0.0949%
- gnomAD_G_AMR: 0.8475%
- gnomAD_G_NFE: 0.0347%
- Transcripts:
- CDC73:ENST00000367435.5:c.972+9327C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0837079
- REMM: 0.084
- Frequency Data:
- gnomAD_G_NFE: 0.0281%
- Transcripts:
- CDC73:ENST00000367435.5:c.1030+500C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0826544
- REMM: 0.083
- Frequency Data:
- UK10K: 0.6876%
- gnomAD_G_AFR: 0.1177%
- gnomAD_G_AMR: 0.6711%
- gnomAD_G_NFE: 0.7177%
- gnomAD_G_SAS: 1.0638%
- Transcripts:
- CDC73:ENST00000367435.5:c.972+9851T>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0502762
- REMM: 0.050
- Frequency Data:
- gnomAD_G_AFR: 0.1553%
- gnomAD_G_AMR: 0.1006%
- gnomAD_G_EAS: 0.0632%
- gnomAD_G_NFE: 0.1424%
- gnomAD_G_SAS: 0.4390%
- Transcripts:
- CDC73:ENST00000367435.5:c.972+9889C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0333218
- REMM: 0.033
- Frequency Data:
- gnomAD_G_AFR: 0.1554%
- gnomAD_G_AMR: 0.0994%
- gnomAD_G_NFE: 0.1445%
- gnomAD_G_SAS: 0.4792%
- Pathogenicity Data:
- Best Score: 0.0230159
- REMM: 0.023
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.0171706
- REMM: 0.017
- Frequency Data:
- No frequency data
- Transcripts:
- CDC73:ENST00000367435.5::
- Pathogenicity Data:
- Best Score: 0.001625
- REMM: 0.002
- Frequency Data:
- gnomAD_G_AFR: 0.0790%
- gnomAD_G_AMR: 0.0124%
- gnomAD_G_EAS: 0.0377%
- gnomAD_G_NFE: 0.0341%
- gnomAD_G_SAS: 0.2037%
- Pathogenicity Data:
- Best Score: 2.22222E-4
- REMM: 0.000
- Frequency Data:
- gnomAD_G_AFR: 0.1564%
- gnomAD_G_AMR: 0.4430%
- gnomAD_G_NFE: 0.8199%
- gnomAD_G_SAS: 1.3821%
- Transcripts:
- CDC73:ENST00000367435.5:c.1030+3609C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- UK10K: 0.6348%
- gnomAD_G_AFR: 0.1277%
- gnomAD_G_AMR: 0.6739%
- gnomAD_G_NFE: 0.7218%
- gnomAD_G_SAS: 1.1387%
- Phenotypic similarity 0.531 to Short rib-polydactyly syndrome, Verma-Naumoff type associated with IFT80.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0010306, Short thorax
- HP:0006625, Multifocal breast carcinoma - HP:0010306, Short thorax
- Phenotypic similarity 0.367 to mouse mutant involving IFT80.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0010099, abnormal thoracic cage shape
- HP:0006625, Multifocal breast carcinoma - MP:0010099, abnormal thoracic cage shape
- Phenotypic similarity 0.284 to zebrafish mutant involving IFT80.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - ZP:0000645, chondrocranium morphology, abnormal
- HP:0006625, Multifocal breast carcinoma - ZP:0000645, chondrocranium morphology, abnormal
- Proximity score 0.500 in interactome to LHX4 and phenotypic similarity 0.676 to Combined pituitary hormone deficiencies, genetic forms associated with LHX4.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0010311, Aplasia/Hypoplasia of the breasts
- HP:0006625, Multifocal breast carcinoma - HP:0010311, Aplasia/Hypoplasia of the breasts
- Known diseases:
- OMIM:611263 Short-rib thoracic dysplasia 2 with or without polydactyly - autosomal recessive
- ORPHA:474 Jeune syndrome - autosomal recessive
- ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type - autosomal recessive
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.217 (p=1.9E-1)
Phenotype Score: 0.531
Variant Score: 0.707
- Phenotype matches to diseases consistent with this MOI:
- Phenotypic similarity 0.531 to ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type
- Phenotypic similarity 0.525 to ORPHA:474 Jeune syndrome
- Phenotypic similarity 0.524 to OMIM:611263 Short-rib thoracic dysplasia 2 with or without polydactyly
- Transcripts:
- IFT80:ENST00000326448.12:c.958-3945G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.763211
- REMM: 0.763
- Frequency Data:
- No frequency data
- Transcripts:
- IFT80:ENST00000326448.12:c.260-1280C>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.659883
- REMM: 0.660
- Frequency Data:
- gnomAD_G_AMR: 0.0720%
- gnomAD_G_NFE: 0.0500%
- gnomAD_G_SAS: 0.1040%
AUTOSOMAL_DOMINANT
Exomiser Score: 0.025 (p=3.8E-1)
Phenotype Score: 0.250
Variant Score: 0.763
- Transcripts:
- IFT80:ENST00000326448.12:c.958-3945G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.763211
- REMM: 0.763
- Frequency Data:
- No frequency data
- Transcripts:
- IFT80:ENST00000326448.12:c.1316-2086T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.647002
- REMM: 0.647
- Frequency Data:
- gnomAD_G_NFE: 0.0044%
- gnomAD_G_SAS: 0.0207%
- Pathogenicity Data:
- Best Score: 0.63586
- REMM: 0.636
- Frequency Data:
- gnomAD_G_NFE: 0.0044%
- gnomAD_G_SAS: 0.0207%
- Transcripts:
- IFT80:ENST00000326448.12:c.1316-6608del:p.(=)
- Pathogenicity Data:
- Best Score: 0.215301
- REMM: 0.215
- Frequency Data:
- No frequency data
- Transcripts:
- IFT80:ENST00000326448.12:c.778-3677G>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0840925
- REMM: 0.084
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.0178655
- REMM: 0.018
- Frequency Data:
- No frequency data
- Proximity score 0.508 in interactome to BRIP1 and phenotypic similarity 0.998 to Hereditary breast and/or ovarian cancer syndrome associated with BRIP1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003002, Breast carcinoma
- HP:0006625, Multifocal breast carcinoma - HP:0003002, Breast carcinoma
AUTOSOMAL_DOMINANT
Exomiser Score: 0.215 (p=1.9E-1)
Phenotype Score: 0.508
Variant Score: 0.732
- Transcripts:
- NDOR1:ENST00000684003.1:c.*2355C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.731534
- REMM: 0.732
- Frequency Data:
- No frequency data
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.107 (p=2.6E-1)
Phenotype Score: 0.508
Variant Score: 0.641
- Transcripts:
- NDOR1:ENST00000684003.1:c.*2355C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.731534
- REMM: 0.732
- Frequency Data:
- No frequency data
- Transcripts:
- NDOR1:ENST00000684003.1:c.1166C>T:p.(Ser389Leu)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- UK10K: 0.3042%
- gnomAD_E_AFR: 0.0359%
- gnomAD_E_AMR: 0.2332%
- gnomAD_E_NFE: 0.2969%
- gnomAD_E_SAS: 0.4734%
- gnomAD_G_AFR: 0.0385%
- gnomAD_G_AMR: 0.2743%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 0.3984%
- gnomAD_G_SAS: 0.3935%
- Phenotypic similarity 0.300 to mouse mutant involving PTPRE.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0010878, increased trabecular bone volume
- HP:0006625, Multifocal breast carcinoma - MP:0010878, increased trabecular bone volume
- Proximity score 0.502 in interactome to OPCML and phenotypic similarity 0.998 to Ovarian cancer, somatic associated with OPCML.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003002, Breast carcinoma
- HP:0006625, Multifocal breast carcinoma - HP:0003002, Breast carcinoma
AUTOSOMAL_DOMINANT
Exomiser Score: 0.213 (p=1.9E-1)
Phenotype Score: 0.502
Variant Score: 0.737
- Transcripts:
- PTPRE:ENST00000254667.8:c.-30-3743_-30-3740del:p.(=)
- Pathogenicity Data:
- Best Score: 0.736536
- REMM: 0.737
- Frequency Data:
- No frequency data
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.209 (p=1.9E-1)
Phenotype Score: 0.502
Variant Score: 0.734
- Transcripts:
- PTPRE:ENST00000254667.8:c.-30-3743_-30-3740del:p.(=)
- Pathogenicity Data:
- Best Score: 0.736536
- REMM: 0.737
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.897948
- REMM: 0.898
- Frequency Data:
- gnomAD_G_AFR: 0.2619%
- gnomAD_G_AMR: 0.6212%
- gnomAD_G_EAS: 0.0584%
- gnomAD_G_NFE: 0.8640%
- gnomAD_G_SAS: 0.1686%
- Transcripts:
- PTPRE:ENST00000254667.8:c.-7-6367_-7-6364del:p.(=)
- Pathogenicity Data:
- Best Score: 0.723785
- REMM: 0.724
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.662156
- REMM: 0.662
- Frequency Data:
- No frequency data
- Transcripts:
- PTPRE:ENST00000254667.8:c.-8+20388_-8+20390del:p.(=)
- Pathogenicity Data:
- Best Score: 0.596424
- REMM: 0.596
- Frequency Data:
- No frequency data
- Transcripts:
- PTPRE:ENST00000254667.8::
- Pathogenicity Data:
- Best Score: 0.472152
- REMM: 0.472
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.561707
- REMM: 0.562
- Frequency Data:
- UK10K: 0.7934%
- gnomAD_G_AFR: 0.1708%
- gnomAD_G_AMR: 0.2940%
- gnomAD_G_NFE: 0.8834%
- gnomAD_G_SAS: 0.1864%
- Transcripts:
- PTPRE:ENST00000254667.8:c.512-1494G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.544088
- REMM: 0.544
- Frequency Data:
- UK10K: 1.0711%
- gnomAD_G_AFR: 0.1972%
- gnomAD_G_AMR: 0.1894%
- gnomAD_G_NFE: 1.0133%
- gnomAD_G_SAS: 0.1449%
- Transcripts:
- PTPRE:ENST00000254667.8::
- Pathogenicity Data:
- Best Score: 0.342792
- REMM: 0.343
- Frequency Data:
- No frequency data
- Transcripts:
- PTPRE:ENST00000254667.8:c.109+657_109+658del:p.(=)
- Pathogenicity Data:
- Best Score: 0.30151
- REMM: 0.302
- Frequency Data:
- No frequency data
- Transcripts:
- PTPRE:ENST00000254667.8:c.-7-2785C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0710766
- REMM: 0.071
- Frequency Data:
- gnomAD_G_EAS: 0.0772%
- gnomAD_G_NFE: 0.0029%
- Transcripts:
- PTPRE:ENST00000254667.8:c.-7-29102G>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0332373
- REMM: 0.033
- Frequency Data:
- No frequency data
- Transcripts:
- PTPRE:ENST00000254667.8::
- Pathogenicity Data:
- Best Score: 4.11111E-4
- REMM: 0.000
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 2.0E-4
- REMM: 0.000
- Frequency Data:
- No frequency data
- Transcripts:
- PTPRE:ENST00000254667.8::
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- UK10K: 0.5290%
- gnomAD_G_AFR: 0.1083%
- gnomAD_G_AMR: 0.3597%
- gnomAD_G_NFE: 0.5940%
- gnomAD_G_SAS: 0.1035%
- Proximity score 0.510 in interactome to MC1R and phenotypic similarity 0.950 to Familial melanoma associated with MC1R.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0100013, Neoplasm of the breast
- HP:0006625, Multifocal breast carcinoma - HP:0100013, Neoplasm of the breast
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.208 (p=1.9E-1)
Phenotype Score: 0.510
Variant Score: 0.724
- Transcripts:
- DYNC1I1:ENST00000447467.6:c.-10+580G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.845129
- REMM: 0.845
- Frequency Data:
- UK10K: 0.2777%
- gnomAD_G_AFR: 0.0505%
- gnomAD_G_AMR: 0.2288%
- gnomAD_G_NFE: 0.2852%
- gnomAD_G_SAS: 0.5804%
- Transcripts:
- DYNC1I1:ENST00000447467.6::
- Pathogenicity Data:
- Best Score: 0.767078
- REMM: 0.767
- Frequency Data:
- gnomAD_G_AFR: 0.0481%
- gnomAD_G_AMR: 0.2288%
- gnomAD_G_NFE: 0.2869%
- gnomAD_G_SAS: 0.5396%
AUTOSOMAL_DOMINANT
Exomiser Score: 0.078 (p=2.9E-1)
Phenotype Score: 0.510
Variant Score: 0.600
- Transcripts:
- DYNC1I1:ENST00000447467.6:c.1687G>A:p.(Ala563Thr)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- gnomAD_E_NFE: 0.0002%
- Transcripts:
- DYNC1I1:ENST00000447467.6:c.490+52983A>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.487322
- REMM: 0.487
- Frequency Data:
- UK10K: 0.0264%
- gnomAD_G_AFR: 0.0120%
- gnomAD_G_AMR: 0.0131%
- gnomAD_G_NFE: 0.0397%
- gnomAD_G_SAS: 0.3113%
- Pathogenicity Data:
- Best Score: 0.395074
- REMM: 0.395
- Frequency Data:
- No frequency data
- Transcripts:
- DYNC1I1:ENST00000447467.6::
- Pathogenicity Data:
- Best Score: 0.389108
- REMM: 0.389
- Frequency Data:
- No frequency data
- Transcripts:
- DYNC1I1:ENST00000447467.6::
- Pathogenicity Data:
- Best Score: 0.382617
- REMM: 0.383
- Frequency Data:
- No frequency data
- Transcripts:
- DYNC1I1:ENST00000447467.6:c.-10+3289C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.349677
- REMM: 0.350
- Frequency Data:
- gnomAD_G_AFR: 0.0048%
- gnomAD_G_NFE: 0.0029%
- Transcripts:
- DYNC1I1:ENST00000447467.6:c.490+43654T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.453914
- REMM: 0.454
- Frequency Data:
- UK10K: 1.4150%
- gnomAD_G_AFR: 0.2886%
- gnomAD_G_AMR: 0.7130%
- gnomAD_G_EAS: 0.0579%
- gnomAD_G_NFE: 1.1922%
- gnomAD_G_SAS: 0.7460%
- Transcripts:
- DYNC1I1:ENST00000447467.6:c.1509+2239C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.401571
- REMM: 0.402
- Frequency Data:
- UK10K: 1.0976%
- gnomAD_G_AFR: 1.1822%
- gnomAD_G_AMR: 1.2570%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 1.3768%
- gnomAD_G_SAS: 0.2490%
- Transcripts:
- DYNC1I1:ENST00000447467.6::
- Pathogenicity Data:
- Best Score: 0.192503
- REMM: 0.193
- Frequency Data:
- gnomAD_G_AFR: 0.0603%
- gnomAD_G_AMR: 0.2951%
- gnomAD_G_NFE: 0.3841%
- Transcripts:
- DYNC1I1:ENST00000447467.6:c.970-13609G>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.122892
- REMM: 0.123
- Frequency Data:
- gnomAD_G_SAS: 0.0207%
- Pathogenicity Data:
- Best Score: 0.0883361
- REMM: 0.088
- Frequency Data:
- No frequency data
- Transcripts:
- DYNC1I1:ENST00000447467.6:c.491-32533T>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0787488
- REMM: 0.079
- Frequency Data:
- gnomAD_G_NFE: 0.0015%
- gnomAD_G_SAS: 0.0208%
- Transcripts:
- DYNC1I1:ENST00000447467.6:c.374+5663G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0627496
- REMM: 0.063
- Frequency Data:
- No frequency data
- Transcripts:
- DYNC1I1:ENST00000447467.6::
- Pathogenicity Data:
- Best Score: 0.089671
- REMM: 0.090
- Frequency Data:
- gnomAD_G_AFR: 0.4528%
- gnomAD_G_AMR: 0.0650%
- gnomAD_G_EAS: 1.1990%
- gnomAD_G_NFE: 0.1730%
- gnomAD_G_SAS: 0.0727%
- Transcripts:
- DYNC1I1:ENST00000447467.6:c.1650+543A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.061173
- REMM: 0.061
- Frequency Data:
- gnomAD_G_AMR: 0.0131%
- gnomAD_G_NFE: 0.0147%
- gnomAD_G_SAS: 0.1242%
- Pathogenicity Data:
- Best Score: 0.0539492
- REMM: 0.054
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.0576056
- REMM: 0.058
- Frequency Data:
- gnomAD_G_AFR: 0.0673%
- gnomAD_G_AMR: 0.4494%
- gnomAD_G_NFE: 0.5952%
- gnomAD_G_SAS: 0.1792%
- Transcripts:
- DYNC1I1:ENST00000447467.6:c.490+39246del:p.(=)
- Pathogenicity Data:
- Best Score: 0.0439849
- REMM: 0.044
- Frequency Data:
- No frequency data
- Transcripts:
- DYNC1I1:ENST00000447467.6:c.374+6641G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0292433
- REMM: 0.029
- Frequency Data:
- No frequency data
- Transcripts:
- DYNC1I1:ENST00000447467.6:c.374+7035C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0164845
- REMM: 0.016
- Frequency Data:
- No frequency data
- Transcripts:
- DYNC1I1:ENST00000447467.6:c.-9-3904G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0144103
- REMM: 0.014
- Frequency Data:
- UK10K: 0.2645%
- gnomAD_G_AFR: 0.0505%
- gnomAD_G_AMR: 0.2875%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 0.3219%
- gnomAD_G_SAS: 1.3049%
- Transcripts:
- DYNC1I1:ENST00000447467.6:c.374+7039C>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.00211111
- REMM: 0.002
- Frequency Data:
- No frequency data
- Transcripts:
- DYNC1I1:ENST00000447467.6:c.491-4800C>T:p.(=)
- Pathogenicity Data:
- Best Score: 6.0E-4
- REMM: 0.001
- Frequency Data:
- gnomAD_G_AFR: 0.0097%
- Transcripts:
- DYNC1I1:ENST00000447467.6:c.491-33952T>C:p.(=)
- Pathogenicity Data:
- Best Score: 5.33333E-4
- REMM: 0.001
- Frequency Data:
- No frequency data
- Transcripts:
- DYNC1I1:ENST00000447467.6:c.491-32633T>G:p.(=)
- Pathogenicity Data:
- Best Score: 5.0E-4
- REMM: 0.001
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- gnomAD_G_AFR: 0.0635%
- gnomAD_G_AMR: 0.0361%
- gnomAD_G_EAS: 0.0412%
- gnomAD_G_NFE: 0.0679%
- gnomAD_G_SAS: 0.5249%
- Transcripts:
- DYNC1I1:ENST00000447467.6:c.374+4098T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- No frequency data
- Transcripts:
- DYNC1I1:ENST00000447467.6:c.374+6338C>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- No frequency data
- Transcripts:
- DYNC1I1:ENST00000447467.6:c.491-34505G>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- No frequency data
- Transcripts:
- DYNC1I1:ENST00000447467.6:c.491-34494A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- No frequency data
- Transcripts:
- DYNC1I1:ENST00000447467.6:c.491-6702C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- UK10K: 0.2513%
- gnomAD_G_AFR: 0.0530%
- gnomAD_G_AMR: 0.3010%
- gnomAD_G_EAS: 0.0386%
- gnomAD_G_NFE: 0.2823%
- gnomAD_G_SAS: 1.4102%
- Phenotypic similarity 0.222 to zebrafish mutant involving EGF.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - ZP:0001067, ceratobranchial cartilage aplastic, abnormal
- HP:0006625, Multifocal breast carcinoma - ZP:0001067, ceratobranchial cartilage aplastic, abnormal
- Proximity score 0.502 in interactome to TERT and phenotypic similarity 0.950 to Familial melanoma associated with TERT.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0100013, Neoplasm of the breast
- HP:0006625, Multifocal breast carcinoma - HP:0100013, Neoplasm of the breast
- Proximity score 0.502 in interactome to TERT and phenotypic similarity 0.357 to mouse mutant of TERT.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0003345, decreased rib number
- HP:0006625, Multifocal breast carcinoma - MP:0003345, decreased rib number
- Known diseases:
- OMIM:611718 ?Hypomagnesemia 4, renal (unconfirmed)
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.208 (p=1.9E-1)
Phenotype Score: 0.502
Variant Score: 0.733
- Transcripts:
- EGF:ENST00000265171.10:c.127+1095C>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.754591
- REMM: 0.755
- Frequency Data:
- No frequency data
- Transcripts:
- EGF:ENST00000265171.10:c.1576-2136G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.726576
- REMM: 0.727
- Frequency Data:
- UK10K: 0.1322%
- gnomAD_G_AFR: 0.0217%
- gnomAD_G_AMR: 0.0916%
- gnomAD_G_NFE: 0.1516%
- gnomAD_G_SAS: 0.0416%
AUTOSOMAL_DOMINANT
Exomiser Score: 0.023 (p=3.9E-1)
Phenotype Score: 0.251
Variant Score: 0.755
- Transcripts:
- EGF:ENST00000265171.10:c.127+1095C>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.754591
- REMM: 0.755
- Frequency Data:
- No frequency data
- Transcripts:
- EGF:ENST00000265171.10:c.127+12463G>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.556126
- REMM: 0.556
- Frequency Data:
- No frequency data
- Transcripts:
- EGF:ENST00000265171.10:c.1602G>A:p.(=)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- UK10K: 0.2116%
- gnomAD_E_AFR: 0.0508%
- gnomAD_E_AMR: 0.1431%
- gnomAD_E_NFE: 0.3021%
- gnomAD_E_SAS: 0.0267%
- gnomAD_G_AFR: 0.0505%
- gnomAD_G_AMR: 0.1570%
- gnomAD_G_NFE: 0.3058%
- Transcripts:
- EGF:ENST00000265171.10::
- Pathogenicity Data:
- Best Score: 0.0825988
- REMM: 0.083
- Frequency Data:
- No frequency data
- Transcripts:
- EGF:ENST00000265171.10:c.2735-284G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0671385
- REMM: 0.067
- Frequency Data:
- No frequency data
- Transcripts:
- EGF:ENST00000265171.10::
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- UK10K: 1.2298%
- gnomAD_G_AFR: 0.1757%
- gnomAD_G_AMR: 0.6157%
- gnomAD_G_NFE: 1.4374%
- gnomAD_G_SAS: 0.2697%
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- gnomAD_G_AFR: 0.2929%
- gnomAD_G_AMR: 0.4857%
- gnomAD_G_EAS: 0.5471%
- gnomAD_G_NFE: 0.7187%
- gnomAD_G_SAS: 0.5188%
- Proximity score 0.504 in interactome to NF1 and phenotypic similarity 0.946 to 17q11 microdeletion syndrome associated with NF1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003002, Breast carcinoma
- HP:0006625, Multifocal breast carcinoma - HP:0003002, Breast carcinoma
- Proximity score 0.504 in interactome to NF1 and phenotypic similarity 0.604 to mouse mutant of NF1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0001267, enlarged chest
- HP:0006625, Multifocal breast carcinoma - MP:0001267, enlarged chest
- Known diseases:
- OMIM:168600 Parkinson disease, susceptibility to (susceptibility)
- OMIM:607136 Spinocerebellar ataxia 17 - autosomal dominant
- ORPHA:98759 Spinocerebellar ataxia type 17 - autosomal dominant
AUTOSOMAL_DOMINANT
Exomiser Score: 0.205 (p=2.0E-1)
Phenotype Score: 0.504
Variant Score: 0.729
- Transcripts:
- TBP:ENST00000392092.7:c.586-98T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.729909
- REMM: 0.730
- Frequency Data:
- gnomAD_E_AMR: 0.0029%
- gnomAD_E_NFE: 0.0026%
- gnomAD_G_NFE: 0.0073%
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.001 (p=7.3E-1)
Phenotype Score: 0.252
Variant Score: 0.405
- Transcripts:
- TBP:ENST00000392092.7:c.586-98T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.729909
- REMM: 0.730
- Frequency Data:
- gnomAD_E_AMR: 0.0029%
- gnomAD_E_NFE: 0.0026%
- gnomAD_G_NFE: 0.0073%
- Transcripts:
- TBP:ENST00000392092.7:c.678-796del:p.(=)
- Pathogenicity Data:
- Best Score: 0.0802849
- REMM: 0.080
- Frequency Data:
- No frequency data
- Phenotypic similarity 0.614 to Obesity due to congenital leptin deficiency associated with LEP.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0000771, Gynecomastia
- HP:0006625, Multifocal breast carcinoma - HP:0000771, Gynecomastia
- Phenotypic similarity 0.326 to mouse mutant involving LEP.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0005605, increased bone mass
- HP:0006625, Multifocal breast carcinoma - MP:0005605, increased bone mass
- Proximity score 0.519 in interactome to NHLH2 and phenotypic similarity 0.616 to Normosmic congenital hypogonadotropic hypogonadism associated with NHLH2.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003187, Breast hypoplasia
- HP:0006625, Multifocal breast carcinoma - HP:0003187, Breast hypoplasia
- Proximity score 0.519 in interactome to NHLH2 and phenotypic similarity 0.328 to mouse mutant of NHLH2.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0003795, abnormal bone structure
- HP:0006625, Multifocal breast carcinoma - MP:0003795, abnormal bone structure
- Known diseases:
- OMIM:614962 Obesity, morbid, due to leptin deficiency - autosomal recessive
- ORPHA:66628 Obesity due to congenital leptin deficiency - autosomal recessive
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.204 (p=2.0E-1)
Phenotype Score: 0.614
Variant Score: 0.605
- Phenotype matches to diseases consistent with this MOI:
- Phenotypic similarity 0.614 to ORPHA:66628 Obesity due to congenital leptin deficiency
- Phenotypic similarity 0.614 to OMIM:614962 Obesity, morbid, due to leptin deficiency
- Transcripts:
- LEP:ENST00000308868.5:c.*1749T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.743981
- REMM: 0.744
- Frequency Data:
- gnomAD_G_AMR: 0.0065%
- gnomAD_G_NFE: 0.0029%
- gnomAD_G_SAS: 0.0207%
- Transcripts:
- LEP:ENST00000308868.5:c.-28-3662G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.626286
- REMM: 0.626
- Frequency Data:
- UK10K: 0.0661%
- gnomAD_G_AFR: 0.0072%
- gnomAD_G_AMR: 0.0849%
- gnomAD_G_NFE: 0.0867%
- gnomAD_G_SAS: 1.0563%
AUTOSOMAL_DOMINANT
Exomiser Score: 0.022 (p=3.9E-1)
Phenotype Score: 0.259
Variant Score: 0.742
- Transcripts:
- LEP:ENST00000308868.5:c.*1749T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.743981
- REMM: 0.744
- Frequency Data:
- gnomAD_G_AMR: 0.0065%
- gnomAD_G_NFE: 0.0029%
- gnomAD_G_SAS: 0.0207%
- Transcripts:
- LEP:ENST00000308868.5::
- Pathogenicity Data:
- Best Score: 0.558804
- REMM: 0.559
- Frequency Data:
- No frequency data
- Transcripts:
- LEP:ENST00000308868.5::
- Pathogenicity Data:
- Best Score: 0.0625758
- REMM: 0.063
- Frequency Data:
- No frequency data
- Transcripts:
- LEP:ENST00000308868.5::
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- UK10K: 0.0793%
- gnomAD_G_AFR: 0.0073%
- gnomAD_G_AMR: 0.0915%
- gnomAD_G_NFE: 0.0985%
- gnomAD_G_SAS: 1.0149%
- Phenotypic similarity 0.676 to Combined pituitary hormone deficiencies, genetic forms associated with GLI2.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0010311, Aplasia/Hypoplasia of the breasts
- HP:0006625, Multifocal breast carcinoma - HP:0010311, Aplasia/Hypoplasia of the breasts
- Phenotypic similarity 0.336 to mouse mutant involving GLI2.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0004174, abnormal spine curvature
- HP:0006625, Multifocal breast carcinoma - MP:0004174, abnormal spine curvature
- Phenotypic similarity 0.280 to zebrafish mutant involving GLI2.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - ZP:0000645, chondrocranium morphology, abnormal
- HP:0006625, Multifocal breast carcinoma - ZP:0000645, chondrocranium morphology, abnormal
- Proximity score 0.502 in interactome to PRKCD and phenotypic similarity 0.876 to Autoimmune lymphoproliferative syndrome associated with PRKCD.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0010619, Fibroadenoma of the breast
- HP:0006625, Multifocal breast carcinoma - HP:0010619, Fibroadenoma of the breast
- Proximity score 0.502 in interactome to PRKCD and phenotypic similarity 0.302 to mouse mutant of PRKCD.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0008395, abnormal osteoblast differentiation
- HP:0006625, Multifocal breast carcinoma - MP:0008395, abnormal osteoblast differentiation
- Known diseases:
- OMIM:610829 Holoprosencephaly 9 - autosomal dominant
- OMIM:615849 Culler-Jones syndrome - autosomal dominant
- ORPHA:220386 Semilobar holoprosencephaly - autosomal dominant
- ORPHA:280195 Septopreoptic holoprosencephaly - autosomal dominant
- ORPHA:280200 Microform holoprosencephaly - autosomal dominant
- ORPHA:93924 Lobar holoprosencephaly - autosomal dominant
- ORPHA:93925 Alobar holoprosencephaly - autosomal dominant
- ORPHA:93926 Midline interhemispheric variant of holoprosencephaly - autosomal dominant
- ORPHA:95494 Combined pituitary hormone deficiencies, genetic forms - autosomal dominant/recessive
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.202 (p=2.0E-1)
Phenotype Score: 0.676
Variant Score: 0.532
- Phenotype matches to diseases consistent with this MOI:
- Phenotypic similarity 0.676 to ORPHA:95494 Combined pituitary hormone deficiencies, genetic forms
- Transcripts:
- GLI2:ENST00000361492.9::
- Pathogenicity Data:
- Best Score: 0.713045
- REMM: 0.713
- Frequency Data:
- UK10K: 0.7934%
- gnomAD_G_AFR: 0.1156%
- gnomAD_G_AMR: 0.3269%
- gnomAD_G_EAS: 0.0194%
- gnomAD_G_NFE: 0.8144%
- gnomAD_G_SAS: 0.8313%
- Transcripts:
- GLI2:ENST00000361492.9:c.149-34927A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.583127
- REMM: 0.583
- Frequency Data:
- UK10K: 0.8596%
- gnomAD_G_AFR: 0.1660%
- gnomAD_G_AMR: 0.8496%
- gnomAD_G_NFE: 0.8555%
- gnomAD_G_SAS: 0.1863%
AUTOSOMAL_DOMINANT
Exomiser Score: 0.014 (p=4.3E-1)
Phenotype Score: 0.676
Variant Score: 0.221
- Phenotype matches to diseases consistent with this MOI:
- Phenotypic similarity 0.676 to ORPHA:95494 Combined pituitary hormone deficiencies, genetic forms
- Phenotypic similarity 0.471 to ORPHA:280195 Septopreoptic holoprosencephaly
- Pathogenicity Data:
- Best Score: 0.220862
- REMM: 0.221
- Frequency Data:
- No frequency data
- Transcripts:
- GLI2:ENST00000361492.9:c.149-4082_149-4046del:p.(=)
- Pathogenicity Data:
- Best Score: 0.438461
- REMM: 0.438
- Frequency Data:
- No frequency data
- Transcripts:
- GLI2:ENST00000361492.9:c.4003A>G:p.(Met1335Val)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- UK10K: 1.6794%
- gnomAD_E_AFR: 0.2332%
- gnomAD_E_AMR: 0.3702%
- gnomAD_E_NFE: 1.4796%
- gnomAD_E_SAS: 0.5330%
- gnomAD_G_AFR: 0.2646%
- gnomAD_G_AMR: 0.6662%
- gnomAD_G_NFE: 1.4562%
- gnomAD_G_SAS: 0.5807%
- Transcripts:
- GLI2:ENST00000361492.9:c.4507G>A:p.(Asp1503Asn)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- UK10K: 1.6794%
- gnomAD_E_AFR: 0.2360%
- gnomAD_E_AMR: 0.3645%
- gnomAD_E_EAS: 0.0025%
- gnomAD_E_NFE: 1.4643%
- gnomAD_E_SAS: 1.1675%
- gnomAD_G_AFR: 0.2629%
- gnomAD_G_AMR: 0.6549%
- gnomAD_G_EAS: 0.0194%
- gnomAD_G_NFE: 1.4398%
- gnomAD_G_SAS: 0.9607%
- Transcripts:
- GLI2:ENST00000361492.9::
- Pathogenicity Data:
- Best Score: 0.240645
- REMM: 0.241
- Frequency Data:
- gnomAD_G_AFR: 0.2184%
- gnomAD_G_AMR: 0.0334%
- gnomAD_G_EAS: 0.0588%
- gnomAD_G_NFE: 0.0119%
- Transcripts:
- GLI2:ENST00000361492.9::
- Pathogenicity Data:
- Best Score: 0.263386
- REMM: 0.263
- Frequency Data:
- UK10K: 0.8199%
- gnomAD_G_AFR: 0.1203%
- gnomAD_G_AMR: 0.3265%
- gnomAD_G_NFE: 0.8216%
- gnomAD_G_SAS: 0.4353%
- Transcripts:
- GLI2:ENST00000361492.9:c.148+34724C>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.724719
- REMM: 0.725
- Frequency Data:
- UK10K: 1.8381%
- gnomAD_G_AFR: 0.3007%
- gnomAD_G_AMR: 1.1757%
- gnomAD_G_EAS: 0.1353%
- gnomAD_G_NFE: 1.8711%
- gnomAD_G_SAS: 1.4487%
- Transcripts:
- GLI2:ENST00000361492.9::
- Pathogenicity Data:
- Best Score: 0.0704452
- REMM: 0.070
- Frequency Data:
- gnomAD_G_AFR: 0.2326%
- gnomAD_G_EAS: 0.4505%
- gnomAD_G_NFE: 0.4711%
- gnomAD_G_SAS: 0.1773%
- Transcripts:
- GLI2:ENST00000361492.9::
- Pathogenicity Data:
- Best Score: 0.0639103
- REMM: 0.064
- Frequency Data:
- gnomAD_G_AFR: 0.3296%
- gnomAD_G_NFE: 0.1395%
- gnomAD_G_SAS: 0.4762%
- Transcripts:
- GLI2:ENST00000361492.9:c.149-45600del:p.(=)
- Pathogenicity Data:
- Best Score: 0.046906
- REMM: 0.047
- Frequency Data:
- No frequency data
- Transcripts:
- GLI2:ENST00000361492.9:c.149-45607A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0399385
- REMM: 0.040
- Frequency Data:
- No frequency data
- Transcripts:
- GLI2:ENST00000361492.9::
- Pathogenicity Data:
- Best Score: 0.00835119
- REMM: 0.008
- Frequency Data:
- No frequency data
- Transcripts:
- GLI2:ENST00000361492.9:c.*1376_*1377insACACCCC:p.(=)
- Pathogenicity Data:
- Best Score: 0.0024
- REMM: 0.002
- Frequency Data:
- gnomAD_G_AFR: 0.0471%
- gnomAD_G_AMR: 0.0749%
- gnomAD_G_NFE: 0.2002%
- gnomAD_G_SAS: 0.1772%
- Transcripts:
- GLI2:ENST00000361492.9:c.148+6426G>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.001
- REMM: 0.001
- Frequency Data:
- gnomAD_G_AFR: 0.0145%
- gnomAD_G_AMR: 0.0327%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 0.0029%
- Transcripts:
- GLI2:ENST00000361492.9:c.148+42817G>A:p.(=)
- Pathogenicity Data:
- Best Score: 2.0E-4
- REMM: 0.000
- Frequency Data:
- gnomAD_G_AMR: 0.0066%
- gnomAD_G_EAS: 0.0386%
- gnomAD_G_NFE: 0.0132%
- Transcripts:
- GLI2:ENST00000361492.9:c.149-43845G>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- gnomAD_G_AMR: 0.0065%
- gnomAD_G_NFE: 0.0132%
- Transcripts:
- GLI2:ENST00000361492.9:c.149-17501G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- UK10K: 0.2116%
- gnomAD_G_AFR: 0.0361%
- gnomAD_G_AMR: 0.1111%
- gnomAD_G_EAS: 0.1733%
- gnomAD_G_NFE: 0.3043%
- gnomAD_G_SAS: 0.0414%
- Transcripts:
- GLI2:ENST00000361492.9:c.149-5323C>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- gnomAD_G_SAS: 0.0207%
- Phenotypic similarity 0.408 to Laminin subunit alpha 2-related congenital muscular dystrophy associated with LAMA2.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0004878, Intercostal muscle weakness
- HP:0006625, Multifocal breast carcinoma - HP:0004878, Intercostal muscle weakness
- Phenotypic similarity 0.368 to mouse mutant involving LAMA2.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0000161, scoliosis
- HP:0006625, Multifocal breast carcinoma - MP:0000161, scoliosis
- Proximity score 0.502 in interactome to ITGA3 and phenotypic similarity 0.603 to Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome associated with ITGA3.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0000771, Gynecomastia
- HP:0006625, Multifocal breast carcinoma - HP:0000771, Gynecomastia
- Known diseases:
- OMIM:607855 Muscular dystrophy, congenital, merosin deficient or partially deficient - autosomal recessive
- OMIM:618138 Muscular dystrophy, limb-girdle, autosomal recessive 23 - autosomal recessive
- ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy - autosomal recessive
- ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy - autosomal recessive
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.195 (p=2.0E-1)
Phenotype Score: 0.502
Variant Score: 0.725
- Phenotype matches to diseases consistent with this MOI:
- Phenotypic similarity 0.408 to ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy
- Transcripts:
- LAMA2:ENST00000421865.3:c.113-17147G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.818452
- REMM: 0.818
- Frequency Data:
- No frequency data
- Transcripts:
- LAMA2:ENST00000421865.3:c.7898+1236G>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.630661
- REMM: 0.631
- Frequency Data:
- No frequency data
AUTOSOMAL_DOMINANT
Exomiser Score: 0.041 (p=3.4E-1)
Phenotype Score: 0.251
Variant Score: 0.818
- Transcripts:
- LAMA2:ENST00000421865.3:c.113-17147G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.818452
- REMM: 0.818
- Frequency Data:
- No frequency data
- Transcripts:
- LAMA2:ENST00000421865.3:c.639+15662A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.620835
- REMM: 0.621
- Frequency Data:
- UK10K: 0.2777%
- gnomAD_G_AFR: 0.0241%
- gnomAD_G_AMR: 0.0787%
- gnomAD_G_NFE: 0.2002%
- gnomAD_G_SAS: 0.0621%
- Transcripts:
- LAMA2:ENST00000421865.3:c.113-44503C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.603014
- REMM: 0.603
- Frequency Data:
- UK10K: 0.0793%
- gnomAD_G_AFR: 0.0434%
- gnomAD_G_AMR: 0.3211%
- gnomAD_G_NFE: 0.1722%
- gnomAD_G_SAS: 0.0207%
- Transcripts:
- LAMA2:ENST00000421865.3:c.5235-198T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.569466
- REMM: 0.569
- Frequency Data:
- No frequency data
- Transcripts:
- LAMA2:ENST00000421865.3::
- Pathogenicity Data:
- Best Score: 0.544775
- REMM: 0.545
- Frequency Data:
- No frequency data
- Transcripts:
- LAMA2:ENST00000421865.3::
- Pathogenicity Data:
- Best Score: 0.544775
- REMM: 0.545
- Frequency Data:
- No frequency data
- Transcripts:
- LAMA2:ENST00000421865.3:c.639+21656G>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.544565
- REMM: 0.545
- Frequency Data:
- No frequency data
- Transcripts:
- LAMA2:ENST00000421865.3:c.396+18104T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.538313
- REMM: 0.538
- Frequency Data:
- No frequency data
- Transcripts:
- LAMA2:ENST00000421865.3:c.112+17841A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.466896
- REMM: 0.467
- Frequency Data:
- No frequency data
- Transcripts:
- LAMA2:ENST00000421865.3::
- Pathogenicity Data:
- Best Score: 0.51121
- REMM: 0.511
- Frequency Data:
- gnomAD_G_AFR: 0.1731%
- gnomAD_G_AMR: 0.6534%
- gnomAD_G_NFE: 1.2027%
- gnomAD_G_SAS: 0.0668%
- Pathogenicity Data:
- Best Score: 0.30082
- REMM: 0.301
- Frequency Data:
- No frequency data
- Transcripts:
- LAMA2:ENST00000421865.3::
- Pathogenicity Data:
- Best Score: 0.414729
- REMM: 0.415
- Frequency Data:
- gnomAD_G_AFR: 0.1756%
- gnomAD_G_AMR: 0.6455%
- gnomAD_G_NFE: 1.2185%
- gnomAD_G_SAS: 0.0688%
- Transcripts:
- LAMA2:ENST00000421865.3:c.113-37582del:p.(=)
- Pathogenicity Data:
- Best Score: 0.448208
- REMM: 0.448
- Frequency Data:
- UK10K: 1.0976%
- gnomAD_G_AFR: 0.2334%
- gnomAD_G_AMR: 0.7515%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 1.3457%
- gnomAD_G_SAS: 0.2070%
- Transcripts:
- LAMA2:ENST00000421865.3:c.112+37343T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.224906
- REMM: 0.225
- Frequency Data:
- UK10K: 0.0397%
- gnomAD_G_AFR: 0.0579%
- gnomAD_G_AMR: 0.4007%
- gnomAD_G_EAS: 0.0387%
- gnomAD_G_NFE: 0.2296%
- gnomAD_G_SAS: 0.0622%
- Transcripts:
- LAMA2:ENST00000421865.3:c.2538-965del:p.(=)
- Pathogenicity Data:
- Best Score: 0.206886
- REMM: 0.207
- Frequency Data:
- No frequency data
- Transcripts:
- LAMA2:ENST00000421865.3:c.2538-964A>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.206886
- REMM: 0.207
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.207646
- REMM: 0.208
- Frequency Data:
- gnomAD_G_NFE: 0.1053%
- Pathogenicity Data:
- Best Score: 0.152026
- REMM: 0.152
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.130325
- REMM: 0.130
- Frequency Data:
- No frequency data
- Transcripts:
- LAMA2:ENST00000421865.3:c.397-10086C>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.117644
- REMM: 0.118
- Frequency Data:
- gnomAD_G_AFR: 0.1069%
- Transcripts:
- LAMA2:ENST00000421865.3:c.397-10094C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.118672
- REMM: 0.119
- Frequency Data:
- gnomAD_G_AFR: 0.2261%
- Pathogenicity Data:
- Best Score: 0.114211
- REMM: 0.114
- Frequency Data:
- No frequency data
- Transcripts:
- LAMA2:ENST00000421865.3:c.397-10085C>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.115477
- REMM: 0.115
- Frequency Data:
- gnomAD_G_AFR: 0.1032%
- gnomAD_G_SAS: 0.2075%
- Transcripts:
- LAMA2:ENST00000421865.3:c.255C>T:p.(=)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- UK10K: 0.0793%
- gnomAD_E_AFR: 0.0149%
- gnomAD_E_AMR: 0.0559%
- gnomAD_E_NFE: 0.1223%
- gnomAD_E_SAS: 0.0058%
- gnomAD_G_AFR: 0.0433%
- gnomAD_G_AMR: 0.3007%
- gnomAD_G_NFE: 0.1544%
- gnomAD_G_SAS: 0.0207%
- Pathogenicity Data:
- Best Score: 0.0778135
- REMM: 0.078
- Frequency Data:
- No frequency data
- Transcripts:
- LAMA2:ENST00000421865.3:c.2538-994A>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0778135
- REMM: 0.078
- Frequency Data:
- No frequency data
- Transcripts:
- LAMA2:ENST00000421865.3:c.113-46146T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.0764202
- REMM: 0.076
- Frequency Data:
- No frequency data
- Transcripts:
- LAMA2:ENST00000421865.3:c.113-46011A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0733433
- REMM: 0.073
- Frequency Data:
- No frequency data
- Transcripts:
- LAMA2:ENST00000421865.3:c.113-46002T>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0733433
- REMM: 0.073
- Frequency Data:
- No frequency data
- Transcripts:
- LAMA2:ENST00000421865.3:c.113-45999G>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.0733433
- REMM: 0.073
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.0715075
- REMM: 0.072
- Frequency Data:
- No frequency data
- Transcripts:
- LAMA2:ENST00000421865.3:c.113-46221T>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0705798
- REMM: 0.071
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.0587968
- REMM: 0.059
- Frequency Data:
- No frequency data
- Transcripts:
- LAMA2:ENST00000421865.3:c.113-51248G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0534024
- REMM: 0.053
- Frequency Data:
- No frequency data
- Transcripts:
- LAMA2:ENST00000421865.3::
- Pathogenicity Data:
- Best Score: 0.0714742
- REMM: 0.071
- Frequency Data:
- gnomAD_G_AFR: 0.2226%
- gnomAD_G_AMR: 0.5776%
- gnomAD_G_NFE: 1.2467%
- gnomAD_G_SAS: 0.0686%
- Transcripts:
- LAMA2:ENST00000421865.3:c.113-46644C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0434405
- REMM: 0.043
- Frequency Data:
- No frequency data
- Transcripts:
- LAMA2:ENST00000421865.3:c.1783-26851G>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.0438917
- REMM: 0.044
- Frequency Data:
- gnomAD_G_AFR: 0.0144%
- gnomAD_G_AMR: 0.0915%
- gnomAD_G_NFE: 0.0588%
- gnomAD_G_SAS: 0.0207%
- Transcripts:
- LAMA2:ENST00000421865.3:c.113-46735A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0413905
- REMM: 0.041
- Frequency Data:
- No frequency data
- Transcripts:
- LAMA2:ENST00000421865.3::
- Pathogenicity Data:
- Best Score: 0.0391556
- REMM: 0.039
- Frequency Data:
- No frequency data
- Transcripts:
- LAMA2:ENST00000421865.3:c.8245-3483A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0405742
- REMM: 0.041
- Frequency Data:
- UK10K: 0.1587%
- gnomAD_G_AFR: 0.0482%
- gnomAD_G_AMR: 0.0785%
- gnomAD_G_NFE: 0.2368%
- gnomAD_G_SAS: 0.2285%
- Transcripts:
- LAMA2:ENST00000421865.3::
- Pathogenicity Data:
- Best Score: 0.0340032
- REMM: 0.034
- Frequency Data:
- No frequency data
- Transcripts:
- LAMA2:ENST00000421865.3:c.1884+864_1884+865del:p.(=)
- Pathogenicity Data:
- Best Score: 0.0322766
- REMM: 0.032
- Frequency Data:
- No frequency data
- Transcripts:
- LAMA2:ENST00000421865.3:c.1884+864_1884+867del:p.(=)
- Pathogenicity Data:
- Best Score: 0.0322766
- REMM: 0.032
- Frequency Data:
- No frequency data
- Transcripts:
- LAMA2:ENST00000421865.3:c.113-50884T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.0320849
- REMM: 0.032
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.0230536
- REMM: 0.023
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.0230536
- REMM: 0.023
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.0230536
- REMM: 0.023
- Frequency Data:
- gnomAD_G_AFR: 0.0171%
- gnomAD_G_NFE: 0.0203%
- Transcripts:
- LAMA2:ENST00000421865.3:c.2450+714del:p.(=)
- Pathogenicity Data:
- Best Score: 0.0210956
- REMM: 0.021
- Frequency Data:
- No frequency data
- Transcripts:
- LAMA2:ENST00000421865.3:c.113-47045A>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.0202008
- REMM: 0.020
- Frequency Data:
- No frequency data
- Transcripts:
- LAMA2:ENST00000421865.3::
- Pathogenicity Data:
- Best Score: 0.0369964
- REMM: 0.037
- Frequency Data:
- gnomAD_G_AFR: 0.2727%
- gnomAD_G_AMR: 0.6951%
- gnomAD_G_NFE: 1.6037%
- gnomAD_G_SAS: 0.1134%
- Transcripts:
- LAMA2:ENST00000421865.3:c.113-49471A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0159187
- REMM: 0.016
- Frequency Data:
- No frequency data
- Transcripts:
- LAMA2:ENST00000421865.3:c.113-49602G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0122881
- REMM: 0.012
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.00815833
- REMM: 0.008
- Frequency Data:
- No frequency data
- Transcripts:
- LAMA2:ENST00000421865.3:c.1884+869A>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.0074
- REMM: 0.007
- Frequency Data:
- No frequency data
- Transcripts:
- LAMA2:ENST00000421865.3:c.7300+2750T>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0073
- REMM: 0.007
- Frequency Data:
- gnomAD_G_AFR: 0.0024%
- gnomAD_G_NFE: 0.0044%
- Transcripts:
- LAMA2:ENST00000421865.3:c.113-50359T>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.00651548
- REMM: 0.007
- Frequency Data:
- No frequency data
- Transcripts:
- LAMA2:ENST00000421865.3:c.113-140G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.00658333
- REMM: 0.007
- Frequency Data:
- UK10K: 0.1058%
- gnomAD_E_AFR: 0.0188%
- gnomAD_E_AMR: 0.1836%
- gnomAD_E_NFE: 0.1829%
- gnomAD_E_SAS: 0.0741%
- gnomAD_G_AFR: 0.0457%
- gnomAD_G_AMR: 0.3596%
- gnomAD_G_NFE: 0.2338%
- gnomAD_G_SAS: 0.0829%
- Transcripts:
- LAMA2:ENST00000421865.3:c.4717+3149G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.00613651
- REMM: 0.006
- Frequency Data:
- UK10K: 0.0926%
- gnomAD_G_AFR: 0.0145%
- gnomAD_G_AMR: 0.1702%
- gnomAD_G_NFE: 0.1663%
- gnomAD_G_SAS: 0.0415%
- Pathogenicity Data:
- Best Score: 0.00215
- REMM: 0.002
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.0013
- REMM: 0.001
- Frequency Data:
- No frequency data
- Transcripts:
- LAMA2:ENST00000421865.3:c.4960-2350C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0012
- REMM: 0.001
- Frequency Data:
- UK10K: 0.0793%
- gnomAD_G_AFR: 0.0144%
- gnomAD_G_AMR: 0.1243%
- gnomAD_G_NFE: 0.1426%
- Transcripts:
- LAMA2:ENST00000421865.3:c.396+7581G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.001
- REMM: 0.001
- Frequency Data:
- UK10K: 1.2431%
- gnomAD_G_AFR: 0.2383%
- gnomAD_G_AMR: 0.7585%
- gnomAD_G_NFE: 1.3574%
- gnomAD_G_SAS: 0.1866%
- Transcripts:
- LAMA2:ENST00000421865.3:c.113-29838C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- gnomAD_G_AFR: 0.0444%
- gnomAD_G_AMR: 0.4032%
- gnomAD_G_NFE: 0.2384%
- gnomAD_G_SAS: 0.0920%
- Transcripts:
- LAMA2:ENST00000421865.3:c.283+1539T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- gnomAD_G_NFE: 0.0059%
- Transcripts:
- LAMA2:ENST00000421865.3:c.1782+26882A>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- No frequency data
- Transcripts:
- LAMA2:ENST00000421865.3:c.1782+26891A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- No frequency data
- Transcripts:
- LAMA2:ENST00000421865.3:c.1884+867A>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- No frequency data
- Transcripts:
- LAMA2:ENST00000421865.3:c.5071+1923G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- gnomAD_G_AFR: 0.5285%
- gnomAD_G_NFE: 0.6438%
- Phenotypic similarity 0.256 to mouse mutant involving TNFAIP3.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0002933, joint inflammation
- HP:0006625, Multifocal breast carcinoma - MP:0002933, joint inflammation
- Phenotypic similarity 0.252 to zebrafish mutant involving TNFAIP3.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - ZP:0002682, pharyngeal arch cartilage malformed, abnormal
- HP:0006625, Multifocal breast carcinoma - ZP:0002682, pharyngeal arch cartilage malformed, abnormal
- Proximity score 0.502 in interactome to IKBKG and phenotypic similarity 0.619 to Incontinentia pigmenti associated with IKBKG.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0100783, Breast aplasia
- HP:0006625, Multifocal breast carcinoma - HP:0100783, Breast aplasia
- Proximity score 0.502 in interactome to IKBKG and phenotypic similarity 0.275 to mouse mutant of IKBKG.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0002398, abnormal bone marrow cell morphology/development
- HP:0006625, Multifocal breast carcinoma - MP:0002398, abnormal bone marrow cell morphology/development
- Known diseases:
- OMIM:616744 Autoinflammatory syndrome, familial, Behcet-like 1 - autosomal dominant
- ORPHA:536 Systemic lupus erythematosus (susceptibility)
AUTOSOMAL_DOMINANT
Exomiser Score: 0.194 (p=2.0E-1)
Phenotype Score: 0.502
Variant Score: 0.724
- Transcripts:
- TNFAIP3:ENST00000612899.5::
- Pathogenicity Data:
- Best Score: 0.723939
- REMM: 0.724
- Frequency Data:
- No frequency data
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.017 (p=4.1E-1)
Phenotype Score: 0.251
Variant Score: 0.724
- Transcripts:
- TNFAIP3:ENST00000612899.5::
- Pathogenicity Data:
- Best Score: 0.723939
- REMM: 0.724
- Frequency Data:
- No frequency data
- Transcripts:
- TNFAIP3:ENST00000612899.5::
- Pathogenicity Data:
- Best Score: 0.723939
- REMM: 0.724
- Frequency Data:
- No frequency data
- Transcripts:
- TNFAIP3:ENST00000612899.5:c.1939A>C:p.(Thr647Pro)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- UK10K: 0.1719%
- gnomAD_E_AFR: 0.0448%
- gnomAD_E_AMR: 0.2817%
- gnomAD_E_EAS: 0.0050%
- gnomAD_E_NFE: 0.2094%
- gnomAD_E_SAS: 0.0684%
- gnomAD_G_AFR: 0.0601%
- gnomAD_G_AMR: 0.4972%
- gnomAD_G_NFE: 0.2205%
- gnomAD_G_SAS: 0.0621%
- Transcripts:
- TNFAIP3:ENST00000612899.5::
- Pathogenicity Data:
- Best Score: 0.39049
- REMM: 0.390
- Frequency Data:
- gnomAD_G_AFR: 0.0147%
- gnomAD_G_AMR: 0.1229%
- gnomAD_G_NFE: 0.0249%
- Transcripts:
- TNFAIP3:ENST00000612899.5::
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- gnomAD_G_AFR: 0.0024%
- Phenotypic similarity 0.320 to mouse mutant involving IGF1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0005508, abnormal skeleton morphology
- HP:0006625, Multifocal breast carcinoma - MP:0005508, abnormal skeleton morphology
- Proximity score 0.504 in interactome to TWIST1 and phenotypic similarity 0.998 to Saethre-Chotzen syndrome with or without eyelid anomalies associated with TWIST1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003002, Breast carcinoma
- HP:0006625, Multifocal breast carcinoma - HP:0003002, Breast carcinoma
- Proximity score 0.504 in interactome to TWIST1 and phenotypic similarity 0.356 to mouse mutant of TWIST1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0000137, abnormal vertebrae morphology
- HP:0006625, Multifocal breast carcinoma - MP:0000137, abnormal vertebrae morphology
- Proximity score 0.504 in interactome to TWIST1 and phenotypic similarity 0.257 to fish mutant of TWIST1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - ZP:0007632, notochord absent, abnormal
- HP:0006625, Multifocal breast carcinoma - ZP:0007632, notochord absent, abnormal
- Known diseases:
- OMIM:608747 Insulin-like growth factor I deficiency - autosomal recessive
- ORPHA:73272 Growth delay due to insulin-like growth factor type 1 deficiency - autosomal recessive
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.186 (p=2.1E-1)
Phenotype Score: 0.504
Variant Score: 0.715
- Transcripts:
- IGF1:ENST00000337514.11:c.63+1680G>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.980214
- REMM: 0.980
- Frequency Data:
- UK10K: 0.0132%
- gnomAD_E_AFR: 0.0034%
- gnomAD_E_AMR: 0.0728%
- gnomAD_E_NFE: 0.0342%
- gnomAD_E_SAS: 0.1924%
- gnomAD_G_AFR: 0.0096%
- gnomAD_G_AMR: 0.0262%
- gnomAD_G_NFE: 0.0382%
- gnomAD_G_SAS: 0.2488%
- Transcripts:
- IGF1:ENST00000337514.11:c.403-1060_403-1058del:p.(=)
- Pathogenicity Data:
- Best Score: 0.487913
- REMM: 0.488
- Frequency Data:
- No frequency data
AUTOSOMAL_DOMINANT
Exomiser Score: 0.002 (p=6.4E-1)
Phenotype Score: 0.252
Variant Score: 0.488
- Transcripts:
- IGF1:ENST00000337514.11:c.403-1060_403-1058del:p.(=)
- Pathogenicity Data:
- Best Score: 0.487913
- REMM: 0.488
- Frequency Data:
- No frequency data
- Transcripts:
- IGF1:ENST00000337514.11:c.403-4548_403-4529del:p.(=)
- Pathogenicity Data:
- Best Score: 0.416935
- REMM: 0.417
- Frequency Data:
- No frequency data
- Transcripts:
- IGF1:ENST00000337514.11:c.402+3962_402+3965del:p.(=)
- Pathogenicity Data:
- Best Score: 0.396358
- REMM: 0.396
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.263312
- REMM: 0.263
- Frequency Data:
- No frequency data
- Transcripts:
- IGF1:ENST00000337514.11:c.*261_*262insT:p.(=)
- Pathogenicity Data:
- Best Score: 0.415308
- REMM: 0.415
- Frequency Data:
- gnomAD_E_AFR: 0.1722%
- gnomAD_E_AMR: 0.2726%
- gnomAD_E_EAS: 0.1803%
- gnomAD_E_NFE: 0.3398%
- gnomAD_E_SAS: 0.0660%
- gnomAD_G_AFR: 1.5914%
- gnomAD_G_AMR: 0.3036%
- gnomAD_G_EAS: 0.2973%
- gnomAD_G_NFE: 0.7146%
- gnomAD_G_SAS: 0.1953%
- Pathogenicity Data:
- Best Score: 0.124256
- REMM: 0.124
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.0348762
- REMM: 0.035
- Frequency Data:
- No frequency data
- Transcripts:
- IGF1:ENST00000337514.11:c.220+17007del:p.(=)
- Pathogenicity Data:
- Best Score: 0.021056
- REMM: 0.021
- Frequency Data:
- UK10K: 0.0264%
- gnomAD_G_AFR: 0.0103%
- gnomAD_G_AMR: 0.0307%
- gnomAD_G_NFE: 0.0416%
- gnomAD_G_SAS: 0.4250%
- Transcripts:
- IGF1:ENST00000337514.11:c.403-4185T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.0140937
- REMM: 0.014
- Frequency Data:
- UK10K: 0.0264%
- gnomAD_G_AFR: 0.0120%
- gnomAD_G_AMR: 0.0327%
- gnomAD_G_NFE: 0.0456%
- gnomAD_G_SAS: 1.3485%
- Pathogenicity Data:
- Best Score: 8.11111E-4
- REMM: 0.001
- Frequency Data:
- gnomAD_G_AFR: 0.0394%
- gnomAD_G_NFE: 0.0736%
- Transcripts:
- IGF1:ENST00000337514.11:c.220+21867T>G:p.(=)
- Pathogenicity Data:
- Best Score: 7.5E-4
- REMM: 0.001
- Frequency Data:
- UK10K: 0.0397%
- gnomAD_G_AFR: 0.0096%
- gnomAD_G_AMR: 0.0261%
- gnomAD_G_NFE: 0.0456%
- gnomAD_G_SAS: 0.3937%
- Phenotypic similarity 0.329 to mouse mutant involving BMPR1B.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0003795, abnormal bone structure
- HP:0006625, Multifocal breast carcinoma - MP:0003795, abnormal bone structure
- Proximity score 0.573 in interactome to BMP15 and phenotypic similarity 0.676 to 46,XX gonadal dysgenesis associated with BMP15.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0010311, Aplasia/Hypoplasia of the breasts
- HP:0006625, Multifocal breast carcinoma - HP:0010311, Aplasia/Hypoplasia of the breasts
- Known diseases:
- OMIM:112600 Brachydactyly, type A2 - autosomal dominant
- OMIM:609441 Acromesomelic dysplasia 3 - autosomal recessive
- OMIM:616849 Brachydactyly, type A1, D - autosomal dominant
- ORPHA:2098 Acromesomelic dysplasia, Grebe type - autosomal recessive
- ORPHA:2639 Fibular aplasia-complex brachydactyly syndrome - autosomal recessive
- ORPHA:93384 Brachydactyly type C - autosomal dominant/recessive
- ORPHA:93388 Brachydactyly type A1 - autosomal dominant
- ORPHA:93396 Brachydactyly type A2 - autosomal dominant
AUTOSOMAL_DOMINANT
Exomiser Score: 0.185 (p=2.1E-1)
Phenotype Score: 0.573
Variant Score: 0.637
- Transcripts:
- BMPR1B:ENST00000515059.6:c.1077-6764C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.638225
- REMM: 0.638
- Frequency Data:
- gnomAD_G_AMR: 0.0065%
- gnomAD_G_NFE: 0.0132%
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.183 (p=2.1E-1)
Phenotype Score: 0.573
Variant Score: 0.636
- Transcripts:
- BMPR1B:ENST00000515059.6:c.1077-6764C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.638225
- REMM: 0.638
- Frequency Data:
- gnomAD_G_AMR: 0.0065%
- gnomAD_G_NFE: 0.0132%
- Transcripts:
- BMPR1B:ENST00000515059.6:c.-17-47179A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.727228
- REMM: 0.727
- Frequency Data:
- UK10K: 0.2116%
- gnomAD_G_AFR: 0.0530%
- gnomAD_G_AMR: 0.3012%
- gnomAD_G_EAS: 0.0194%
- gnomAD_G_NFE: 0.2691%
- gnomAD_G_SAS: 0.6650%
- Transcripts:
- BMPR1B:ENST00000515059.6:c.349+3435T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.537858
- REMM: 0.538
- Frequency Data:
- No frequency data
- Transcripts:
- BMPR1B:ENST00000515059.6:c.-182-25201C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.50243
- REMM: 0.502
- Frequency Data:
- gnomAD_G_AFR: 0.0024%
- gnomAD_G_AMR: 0.0196%
- gnomAD_G_NFE: 0.0279%
- gnomAD_G_SAS: 0.3530%
- Transcripts:
- BMPR1B:ENST00000515059.6:c.-17-26724C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.461046
- REMM: 0.461
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.460456
- REMM: 0.460
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.446422
- REMM: 0.446
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.42809
- REMM: 0.428
- Frequency Data:
- No frequency data
- Transcripts:
- BMPR1B:ENST00000515059.6:c.-112-38706del:p.(=)
- Pathogenicity Data:
- Best Score: 0.36317
- REMM: 0.363
- Frequency Data:
- No frequency data
- Transcripts:
- BMPR1B:ENST00000515059.6:c.-113+26182del:p.(=)
- Pathogenicity Data:
- Best Score: 0.511027
- REMM: 0.511
- Frequency Data:
- gnomAD_G_AFR: 0.2410%
- gnomAD_G_AMR: 1.4234%
- gnomAD_G_NFE: 1.5416%
- gnomAD_G_SAS: 0.3513%
- Transcripts:
- BMPR1B:ENST00000515059.6:c.779-491_779-490del:p.(=)
- Pathogenicity Data:
- Best Score: 0.24684
- REMM: 0.247
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.489416
- REMM: 0.489
- Frequency Data:
- gnomAD_G_AFR: 0.2476%
- gnomAD_G_AMR: 1.4098%
- gnomAD_G_NFE: 1.5608%
- gnomAD_G_SAS: 0.3621%
- Transcripts:
- BMPR1B:ENST00000515059.6:c.-182-34526T>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.192683
- REMM: 0.193
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.227605
- REMM: 0.228
- Frequency Data:
- gnomAD_G_AFR: 0.0610%
- gnomAD_G_AMR: 0.3867%
- gnomAD_G_EAS: 0.1214%
- gnomAD_G_NFE: 0.3342%
- gnomAD_G_SAS: 0.8877%
- Pathogenicity Data:
- Best Score: 0.161811
- REMM: 0.162
- Frequency Data:
- No frequency data
- Transcripts:
- BMPR1B:ENST00000515059.6::
- Pathogenicity Data:
- Best Score: 0.772012
- REMM: 0.772
- Frequency Data:
- gnomAD_E_SAS: 1.9231%
- gnomAD_G_AMR: 0.0549%
- gnomAD_G_EAS: 0.1333%
- gnomAD_G_NFE: 0.0732%
- Transcripts:
- BMPR1B:ENST00000515059.6:c.-18+46002G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.147521
- REMM: 0.148
- Frequency Data:
- gnomAD_G_AFR: 0.0553%
- gnomAD_G_AMR: 0.3007%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 0.2749%
- gnomAD_G_SAS: 0.7258%
- Pathogenicity Data:
- Best Score: 0.161811
- REMM: 0.162
- Frequency Data:
- gnomAD_G_AFR: 1.0334%
- gnomAD_G_AMR: 0.4562%
- gnomAD_G_EAS: 0.0794%
- gnomAD_G_NFE: 0.3326%
- gnomAD_G_SAS: 0.8557%
- Transcripts:
- BMPR1B:ENST00000515059.6:c.-182-35360del:p.(=)
- Pathogenicity Data:
- Best Score: 0.115576
- REMM: 0.116
- Frequency Data:
- No frequency data
- Transcripts:
- BMPR1B:ENST00000515059.6:c.-183+37066G>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.113354
- REMM: 0.113
- Frequency Data:
- No frequency data
- Transcripts:
- BMPR1B:ENST00000515059.6:c.-183+36091G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.106138
- REMM: 0.106
- Frequency Data:
- No frequency data
- Transcripts:
- BMPR1B:ENST00000515059.6:c.-182-35643C>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.101808
- REMM: 0.102
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.0896099
- REMM: 0.090
- Frequency Data:
- gnomAD_G_AFR: 0.0521%
- gnomAD_G_NFE: 0.0584%
- Pathogenicity Data:
- Best Score: 0.11614
- REMM: 0.116
- Frequency Data:
- gnomAD_G_AFR: 1.0577%
- gnomAD_G_AMR: 0.8219%
- gnomAD_G_EAS: 0.6536%
- gnomAD_G_NFE: 1.0897%
- gnomAD_G_SAS: 1.2662%
- Pathogenicity Data:
- Best Score: 0.0734349
- REMM: 0.073
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.0718448
- REMM: 0.072
- Frequency Data:
- No frequency data
- Transcripts:
- BMPR1B:ENST00000515059.6:c.-182-36817T>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0702317
- REMM: 0.070
- Frequency Data:
- No frequency data
- Transcripts:
- BMPR1B:ENST00000515059.6:c.-182-36525G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0705516
- REMM: 0.071
- Frequency Data:
- gnomAD_G_AFR: 0.3019%
- gnomAD_G_AMR: 0.2729%
- gnomAD_G_EAS: 0.0197%
- gnomAD_G_NFE: 0.3304%
- gnomAD_G_SAS: 0.2084%
- Transcripts:
- BMPR1B:ENST00000515059.6:c.-182-37395C>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0637234
- REMM: 0.064
- Frequency Data:
- No frequency data
- Transcripts:
- BMPR1B:ENST00000515059.6:c.-182-36949C>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.054881
- REMM: 0.055
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.0500329
- REMM: 0.050
- Frequency Data:
- No frequency data
- Transcripts:
- BMPR1B:ENST00000515059.6:c.-182-36499G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0536544
- REMM: 0.054
- Frequency Data:
- gnomAD_G_AFR: 0.2652%
- gnomAD_G_AMR: 0.3156%
- gnomAD_G_NFE: 0.2763%
- gnomAD_G_SAS: 0.4206%
- Transcripts:
- BMPR1B:ENST00000515059.6:c.-182-36500C>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0518544
- REMM: 0.052
- Frequency Data:
- gnomAD_G_AFR: 0.2573%
- gnomAD_G_AMR: 0.3028%
- gnomAD_G_NFE: 0.2796%
- gnomAD_G_SAS: 0.4248%
- Transcripts:
- BMPR1B:ENST00000515059.6:c.-182-34783A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0480151
- REMM: 0.048
- Frequency Data:
- gnomAD_G_AFR: 0.3773%
- gnomAD_G_AMR: 0.5674%
- gnomAD_G_EAS: 0.0194%
- gnomAD_G_NFE: 0.2386%
- gnomAD_G_SAS: 0.4460%
- Transcripts:
- BMPR1B:ENST00000515059.6:c.-182-36942G>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0429877
- REMM: 0.043
- Frequency Data:
- No frequency data
- Transcripts:
- BMPR1B:ENST00000515059.6:c.-182-36774T>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0407056
- REMM: 0.041
- Frequency Data:
- No frequency data
- Transcripts:
- BMPR1B:ENST00000515059.6:c.-182-39102G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0392988
- REMM: 0.039
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.0380794
- REMM: 0.038
- Frequency Data:
- No frequency data
- Transcripts:
- BMPR1B:ENST00000515059.6:c.-182-35673T>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0367845
- REMM: 0.037
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.036646
- REMM: 0.037
- Frequency Data:
- No frequency data
- Transcripts:
- BMPR1B:ENST00000515059.6:c.-182-36057T>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0358734
- REMM: 0.036
- Frequency Data:
- No frequency data
- Transcripts:
- BMPR1B:ENST00000515059.6:c.-182-36663C>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.034969
- REMM: 0.035
- Frequency Data:
- No frequency data
- Transcripts:
- BMPR1B:ENST00000515059.6:c.-182-36056T>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0334151
- REMM: 0.033
- Frequency Data:
- No frequency data
- Transcripts:
- BMPR1B:ENST00000515059.6:c.-182-35220C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0329147
- REMM: 0.033
- Frequency Data:
- No frequency data
- Transcripts:
- BMPR1B:ENST00000515059.6:c.-182-38335G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0325044
- REMM: 0.033
- Frequency Data:
- gnomAD_G_EAS: 0.0194%
- gnomAD_G_NFE: 0.0015%
- gnomAD_G_SAS: 0.0455%
- Transcripts:
- BMPR1B:ENST00000515059.6:c.-182-36629G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0319821
- REMM: 0.032
- Frequency Data:
- No frequency data
- Transcripts:
- BMPR1B:ENST00000515059.6:c.-182-35280G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0319143
- REMM: 0.032
- Frequency Data:
- No frequency data
- Transcripts:
- BMPR1B:ENST00000515059.6:c.-182-35164A>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.0315282
- REMM: 0.032
- Frequency Data:
- No frequency data
- Transcripts:
- BMPR1B:ENST00000515059.6:c.-182-38346G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.031398
- REMM: 0.031
- Frequency Data:
- gnomAD_G_EAS: 0.0774%
- Transcripts:
- BMPR1B:ENST00000515059.6:c.-182-39046G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0294929
- REMM: 0.029
- Frequency Data:
- No frequency data
- Transcripts:
- BMPR1B:ENST00000515059.6:c.-182-39045T>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0288595
- REMM: 0.029
- Frequency Data:
- No frequency data
- Transcripts:
- BMPR1B:ENST00000515059.6:c.-182-35701A>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0287044
- REMM: 0.029
- Frequency Data:
- No frequency data
- Transcripts:
- BMPR1B:ENST00000515059.6:c.-182-38418G>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.0279484
- REMM: 0.028
- Frequency Data:
- No frequency data
- Transcripts:
- BMPR1B:ENST00000515059.6:c.-182-39041C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0263976
- REMM: 0.026
- Frequency Data:
- No frequency data
- Transcripts:
- BMPR1B:ENST00000515059.6:c.-182-35210T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.0255099
- REMM: 0.026
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.0254476
- REMM: 0.025
- Frequency Data:
- gnomAD_G_AMR: 0.0183%
- Pathogenicity Data:
- Best Score: 0.0238762
- REMM: 0.024
- Frequency Data:
- No frequency data
- Transcripts:
- BMPR1B:ENST00000515059.6:c.-182-38407C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0238762
- REMM: 0.024
- Frequency Data:
- gnomAD_G_AMR: 0.0142%
- Transcripts:
- BMPR1B:ENST00000515059.6:c.-182-35208T>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0235099
- REMM: 0.024
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.02135
- REMM: 0.021
- Frequency Data:
- No frequency data
- Transcripts:
- BMPR1B:ENST00000515059.6:c.-182-36908T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.0196544
- REMM: 0.020
- Frequency Data:
- No frequency data
- Transcripts:
- BMPR1B:ENST00000515059.6:c.-182-39074T>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0192544
- REMM: 0.019
- Frequency Data:
- gnomAD_G_AFR: 0.0328%
- gnomAD_G_AMR: 0.0068%
- gnomAD_G_NFE: 0.0137%
- gnomAD_G_SAS: 0.1775%
- Transcripts:
- BMPR1B:ENST00000515059.6:c.-182-39149C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0182988
- REMM: 0.018
- Frequency Data:
- gnomAD_G_AFR: 0.0385%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 0.0092%
- Transcripts:
- BMPR1B:ENST00000515059.6:c.-182-34759T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.0191417
- REMM: 0.019
- Frequency Data:
- gnomAD_G_AFR: 0.0698%
- gnomAD_G_AMR: 0.1210%
- gnomAD_G_EAS: 0.0965%
- gnomAD_G_NFE: 0.3881%
- gnomAD_G_SAS: 0.2174%
- Transcripts:
- BMPR1B:ENST00000515059.6:c.-182-36149G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0174817
- REMM: 0.017
- Frequency Data:
- No frequency data
- Transcripts:
- BMPR1B:ENST00000515059.6:c.-182-35451G>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.0174655
- REMM: 0.017
- Frequency Data:
- No frequency data
- Transcripts:
- BMPR1B:ENST00000515059.6:c.1077-7483T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.0187631
- REMM: 0.019
- Frequency Data:
- UK10K: 0.2116%
- gnomAD_G_AFR: 0.0505%
- gnomAD_G_AMR: 0.3203%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 0.2866%
- gnomAD_G_SAS: 0.6421%
- Transcripts:
- BMPR1B:ENST00000515059.6:c.-18+34064A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0185988
- REMM: 0.019
- Frequency Data:
- gnomAD_G_AFR: 0.6066%
- gnomAD_G_AMR: 0.3405%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 0.2720%
- gnomAD_G_SAS: 0.7273%
- Transcripts:
- BMPR1B:ENST00000515059.6:c.-182-35699G>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.0150107
- REMM: 0.015
- Frequency Data:
- No frequency data
- Transcripts:
- BMPR1B:ENST00000515059.6:c.-182-34753T>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0238631
- REMM: 0.024
- Frequency Data:
- gnomAD_G_AFR: 0.9507%
- gnomAD_G_AMR: 0.9273%
- gnomAD_G_EAS: 0.0967%
- gnomAD_G_NFE: 1.3360%
- gnomAD_G_SAS: 1.3362%
- Transcripts:
- BMPR1B:ENST00000515059.6:c.-182-35315C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0141361
- REMM: 0.014
- Frequency Data:
- No frequency data
- Transcripts:
- BMPR1B:ENST00000515059.6:c.-182-38294T>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.013831
- REMM: 0.014
- Frequency Data:
- gnomAD_G_AFR: 0.2238%
- gnomAD_G_AMR: 0.0553%
- gnomAD_G_EAS: 0.0387%
- gnomAD_G_NFE: 0.0140%
- Transcripts:
- BMPR1B:ENST00000515059.6:c.-182-39221del:p.(=)
- Pathogenicity Data:
- Best Score: 0.0129377
- REMM: 0.013
- Frequency Data:
- No frequency data
- Transcripts:
- BMPR1B:ENST00000515059.6:c.-182-38349G>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.00891151
- REMM: 0.009
- Frequency Data:
- No frequency data
- Transcripts:
- BMPR1B:ENST00000515059.6:c.-182-37239G>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.00874008
- REMM: 0.009
- Frequency Data:
- No frequency data
- Transcripts:
- BMPR1B:ENST00000515059.6:c.-182-39145G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.00673095
- REMM: 0.007
- Frequency Data:
- gnomAD_G_AFR: 0.0025%
- gnomAD_G_AMR: 0.0615%
- gnomAD_G_NFE: 0.0076%
- Transcripts:
- BMPR1B:ENST00000515059.6:c.-182-37224C>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.00660794
- REMM: 0.007
- Frequency Data:
- No frequency data
- Transcripts:
- BMPR1B:ENST00000515059.6:c.-182-38438A>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.0061754
- REMM: 0.006
- Frequency Data:
- No frequency data
- Transcripts:
- BMPR1B:ENST00000515059.6:c.585+2336G>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.00665278
- REMM: 0.007
- Frequency Data:
- gnomAD_G_AFR: 0.0410%
- gnomAD_G_AMR: 0.3079%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 0.2663%
- gnomAD_G_SAS: 0.6437%
- Transcripts:
- BMPR1B:ENST00000515059.6:c.-182-34931C>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.00553333
- REMM: 0.006
- Frequency Data:
- gnomAD_G_AFR: 0.0632%
- gnomAD_G_AMR: 0.0350%
- gnomAD_G_NFE: 0.0430%
- gnomAD_G_SAS: 0.0462%
- Transcripts:
- BMPR1B:ENST00000515059.6:c.-17-49077G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.00537063
- REMM: 0.005
- Frequency Data:
- UK10K: 0.0793%
- gnomAD_G_AFR: 0.0337%
- gnomAD_G_AMR: 0.0851%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 0.1118%
- gnomAD_G_SAS: 0.6858%
- Transcripts:
- BMPR1B:ENST00000515059.6:c.-182-37203T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.003975
- REMM: 0.004
- Frequency Data:
- gnomAD_G_NFE: 0.0031%
- gnomAD_G_SAS: 0.0232%
- Transcripts:
- BMPR1B:ENST00000515059.6:c.-182-35070C>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0136825
- REMM: 0.014
- Frequency Data:
- gnomAD_G_AFR: 1.7138%
- gnomAD_G_AMR: 1.4585%
- gnomAD_G_NFE: 1.9271%
- gnomAD_G_SAS: 1.6454%
- Transcripts:
- BMPR1B:ENST00000515059.6:c.-182-34819G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.00321508
- REMM: 0.003
- Frequency Data:
- gnomAD_G_AFR: 0.5550%
- gnomAD_G_AMR: 0.5014%
- gnomAD_G_EAS: 0.6194%
- gnomAD_G_NFE: 0.6979%
- gnomAD_G_SAS: 0.4971%
- Transcripts:
- BMPR1B:ENST00000515059.6:c.-182-35036G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0156841
- REMM: 0.016
- Frequency Data:
- gnomAD_G_AFR: 1.7247%
- gnomAD_G_AMR: 1.5481%
- gnomAD_G_EAS: 0.0580%
- gnomAD_G_NFE: 1.9911%
- gnomAD_G_SAS: 1.9863%
- Transcripts:
- BMPR1B:ENST00000515059.6:c.-182-37156G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.00191071
- REMM: 0.002
- Frequency Data:
- gnomAD_G_AFR: 0.0027%
- gnomAD_G_NFE: 0.0062%
- gnomAD_G_SAS: 0.0234%
- Transcripts:
- BMPR1B:ENST00000515059.6:c.-182-37945T>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.00173095
- REMM: 0.002
- Frequency Data:
- gnomAD_G_AFR: 0.0159%
- gnomAD_G_AMR: 0.0208%
- gnomAD_G_NFE: 0.0263%
- gnomAD_G_SAS: 0.0937%
- Transcripts:
- BMPR1B:ENST00000515059.6:c.-17-17409del:p.(=)
- Pathogenicity Data:
- Best Score: 0.00158333
- REMM: 0.002
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.00158333
- REMM: 0.002
- Frequency Data:
- No frequency data
- Transcripts:
- BMPR1B:ENST00000515059.6::
- Pathogenicity Data:
- Best Score: 0.00154444
- REMM: 0.002
- Frequency Data:
- No frequency data
- Transcripts:
- BMPR1B:ENST00000515059.6:c.-182-35135T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.00118333
- REMM: 0.001
- Frequency Data:
- No frequency data
- Transcripts:
- BMPR1B:ENST00000515059.6:c.-182-36441G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.00183333
- REMM: 0.002
- Frequency Data:
- gnomAD_G_AFR: 1.4046%
- gnomAD_G_AMR: 0.5413%
- gnomAD_G_EAS: 0.0387%
- gnomAD_G_NFE: 0.3920%
- gnomAD_G_SAS: 0.5332%
- Transcripts:
- BMPR1B:ENST00000515059.6::
- Pathogenicity Data:
- Best Score: 0.00104444
- REMM: 0.001
- Frequency Data:
- No frequency data
- Transcripts:
- BMPR1B:ENST00000515059.6:c.-182-37716A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.001
- REMM: 0.001
- Frequency Data:
- gnomAD_G_AFR: 0.0660%
- gnomAD_G_AMR: 0.0069%
- gnomAD_G_EAS: 0.0582%
- gnomAD_G_NFE: 0.0046%
- gnomAD_G_SAS: 0.0927%
- Transcripts:
- BMPR1B:ENST00000515059.6:c.-182-36860A>G:p.(=)
- Pathogenicity Data:
- Best Score: 7.0E-4
- REMM: 0.001
- Frequency Data:
- gnomAD_G_NFE: 0.0017%
- Transcripts:
- BMPR1B:ENST00000515059.6:c.-182-38039C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.00143333
- REMM: 0.001
- Frequency Data:
- gnomAD_G_AFR: 1.6332%
- gnomAD_G_AMR: 0.2381%
- gnomAD_G_EAS: 0.0195%
- gnomAD_G_NFE: 0.0079%
- gnomAD_G_SAS: 0.0237%
- Transcripts:
- BMPR1B:ENST00000515059.6:c.-183+30390A>C:p.(=)
- Pathogenicity Data:
- Best Score: 6.0E-4
- REMM: 0.001
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.001625
- REMM: 0.002
- Frequency Data:
- gnomAD_G_AFR: 1.6303%
- gnomAD_G_AMR: 1.7343%
- gnomAD_G_EAS: 0.1628%
- gnomAD_G_NFE: 1.0449%
- gnomAD_G_SAS: 1.3200%
- Transcripts:
- BMPR1B:ENST00000515059.6:c.-182-36919T>C:p.(=)
- Pathogenicity Data:
- Best Score: 4.5E-4
- REMM: 0.000
- Frequency Data:
- No frequency data
- Transcripts:
- BMPR1B:ENST00000515059.6:c.-182-37563A>C:p.(=)
- Pathogenicity Data:
- Best Score: 2.5E-4
- REMM: 0.000
- Frequency Data:
- No frequency data
- Transcripts:
- BMPR1B:ENST00000515059.6:c.-182-37770G>T:p.(=)
- Pathogenicity Data:
- Best Score: 2.5E-4
- REMM: 0.000
- Frequency Data:
- gnomAD_G_AFR: 0.0104%
- gnomAD_G_AMR: 0.0068%
- gnomAD_G_EAS: 0.0387%
- gnomAD_G_NFE: 0.0077%
- Transcripts:
- BMPR1B:ENST00000515059.6:c.1252+56C>G:p.(=)
- Pathogenicity Data:
- Best Score: 2.22222E-4
- REMM: 0.000
- Frequency Data:
- UK10K: 0.1984%
- gnomAD_E_AFR: 0.0242%
- gnomAD_E_AMR: 0.1769%
- gnomAD_E_NFE: 0.2351%
- gnomAD_E_SAS: 0.8211%
- gnomAD_G_AFR: 0.0409%
- gnomAD_G_AMR: 0.3073%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 0.2646%
- gnomAD_G_SAS: 0.6421%
- Transcripts:
- BMPR1B:ENST00000515059.6:c.-182-37013G>C:p.(=)
- Pathogenicity Data:
- Best Score: 2.0E-4
- REMM: 0.000
- Frequency Data:
- gnomAD_G_AFR: 1.3099%
- gnomAD_G_AMR: 0.4489%
- gnomAD_G_EAS: 0.0202%
- gnomAD_G_NFE: 0.2689%
- gnomAD_G_SAS: 0.0250%
- Transcripts:
- BMPR1B:ENST00000515059.6:c.-182-39229A>G:p.(=)
- Pathogenicity Data:
- Best Score: 1.0E-4
- REMM: 0.000
- Frequency Data:
- gnomAD_G_AFR: 0.2571%
- gnomAD_G_AMR: 0.1542%
- gnomAD_G_EAS: 0.0785%
- gnomAD_G_NFE: 0.2177%
- gnomAD_G_SAS: 0.3984%
- Transcripts:
- BMPR1B:ENST00000515059.6:c.-182-37241T>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- gnomAD_G_NFE: 0.0016%
- Transcripts:
- BMPR1B:ENST00000515059.6:c.-182-37162A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- gnomAD_G_AFR: 0.6035%
- gnomAD_G_AMR: 0.0846%
- gnomAD_G_EAS: 0.1592%
- gnomAD_G_SAS: 0.0236%
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- gnomAD_G_AFR: 0.8778%
- gnomAD_G_AMR: 0.2315%
- gnomAD_G_NFE: 0.4064%
- gnomAD_G_SAS: 0.0929%
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- No frequency data
- Transcripts:
- BMPR1B:ENST00000515059.6:c.-18+43913C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- UK10K: 0.0397%
- gnomAD_G_AFR: 0.0072%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 0.0235%
- gnomAD_G_SAS: 0.2486%
- Transcripts:
- BMPR1B:ENST00000515059.6:c.-17-25102A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- gnomAD_G_AFR: 0.0048%
- Proximity score 0.502 in interactome to LHX4 and phenotypic similarity 0.676 to Combined pituitary hormone deficiencies, genetic forms associated with LHX4.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0010311, Aplasia/Hypoplasia of the breasts
- HP:0006625, Multifocal breast carcinoma - HP:0010311, Aplasia/Hypoplasia of the breasts
- Known diseases - observed variants incompatible with mode of inheritance:
- OMIM:618456 Deafness, autosomal recessive 114 - autosomal recessive
AUTOSOMAL_DOMINANT
Exomiser Score: 0.183 (p=2.1E-1)
Phenotype Score: 0.251
Variant Score: 1.000
- Transcripts:
- GRAP:ENST00000284154.10:c.311A>T:p.(Gln104Leu)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- gnomAD_E_NFE: 0.0012%
- gnomAD_G_NFE: 0.0059%
- Proximity score 0.515 in interactome to COG7 and phenotypic similarity 0.643 to Congenital disorder of glycosylation, type IIe associated with COG7.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003186, Inverted nipples
- HP:0006625, Multifocal breast carcinoma - HP:0003186, Inverted nipples
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.178 (p=2.1E-1)
Phenotype Score: 0.515
Variant Score: 0.697
- Transcripts:
- GOLGA3:ENST00000450791.8:c.407-303del:p.(=)
- Pathogenicity Data:
- Best Score: 0.697336
- REMM: 0.697
- Frequency Data:
- No frequency data
AUTOSOMAL_DOMINANT
Exomiser Score: 0.125 (p=2.4E-1)
Phenotype Score: 0.515
Variant Score: 0.652
- Transcripts:
- GOLGA3:ENST00000450791.8::
- Pathogenicity Data:
- Best Score: 0.652132
- REMM: 0.652
- Frequency Data:
- No frequency data
- Transcripts:
- GOLGA3:ENST00000450791.8:c.406+1016T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.37447
- REMM: 0.374
- Frequency Data:
- UK10K: 0.1455%
- gnomAD_G_AFR: 0.0505%
- gnomAD_G_AMR: 0.0196%
- gnomAD_G_NFE: 0.2645%
- gnomAD_G_SAS: 0.3106%
- Transcripts:
- GOLGA3:ENST00000450791.8:c.134-469C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.343352
- REMM: 0.343
- Frequency Data:
- No frequency data
- Transcripts:
- GOLGA3:ENST00000450791.8:c.134-493C>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.328594
- REMM: 0.329
- Frequency Data:
- No frequency data
- Transcripts:
- GOLGA3:ENST00000450791.8:c.134-467G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.325806
- REMM: 0.326
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.305237
- REMM: 0.305
- Frequency Data:
- No frequency data
- Transcripts:
- GOLGA3:ENST00000450791.8:c.134-535C>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.277413
- REMM: 0.277
- Frequency Data:
- No frequency data
- Transcripts:
- GOLGA3:ENST00000450791.8:c.1291-456C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.273938
- REMM: 0.274
- Frequency Data:
- No frequency data
- Transcripts:
- GOLGA3:ENST00000450791.8:c.134-964C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.271832
- REMM: 0.272
- Frequency Data:
- No frequency data
- Transcripts:
- GOLGA3:ENST00000450791.8:c.134-973A>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.246836
- REMM: 0.247
- Frequency Data:
- No frequency data
- Transcripts:
- GOLGA3:ENST00000450791.8:c.134-568C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.286174
- REMM: 0.286
- Frequency Data:
- gnomAD_G_NFE: 0.8333%
- Transcripts:
- GOLGA3:ENST00000450791.8:c.134-1039A>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.234615
- REMM: 0.235
- Frequency Data:
- No frequency data
- Transcripts:
- GOLGA3:ENST00000450791.8:c.134-478A>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.224396
- REMM: 0.224
- Frequency Data:
- No frequency data
- Transcripts:
- GOLGA3:ENST00000450791.8:c.134-994G>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.223603
- REMM: 0.224
- Frequency Data:
- No frequency data
- Transcripts:
- GOLGA3:ENST00000450791.8:c.134-1047C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.219533
- REMM: 0.220
- Frequency Data:
- No frequency data
- Transcripts:
- GOLGA3:ENST00000450791.8:c.2470-2074C>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.217725
- REMM: 0.218
- Frequency Data:
- No frequency data
- Transcripts:
- GOLGA3:ENST00000450791.8:c.134-453T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.196867
- REMM: 0.197
- Frequency Data:
- No frequency data
- Transcripts:
- GOLGA3:ENST00000450791.8:c.134-460G>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.193321
- REMM: 0.193
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.190624
- REMM: 0.191
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.190624
- REMM: 0.191
- Frequency Data:
- No frequency data
- Transcripts:
- GOLGA3:ENST00000450791.8:c.134-997C>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.163157
- REMM: 0.163
- Frequency Data:
- No frequency data
- Transcripts:
- GOLGA3:ENST00000450791.8:c.134-1021G>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.160307
- REMM: 0.160
- Frequency Data:
- No frequency data
- Transcripts:
- GOLGA3:ENST00000450791.8:c.*1213C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.178746
- REMM: 0.179
- Frequency Data:
- UK10K: 0.1455%
- gnomAD_E_NFE: 0.6944%
- gnomAD_G_AFR: 0.0529%
- gnomAD_G_AMR: 0.0196%
- gnomAD_G_NFE: 0.2529%
- gnomAD_G_SAS: 0.3108%
- Transcripts:
- GOLGA3:ENST00000450791.8:c.134-797A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.153583
- REMM: 0.154
- Frequency Data:
- No frequency data
- Transcripts:
- GOLGA3:ENST00000450791.8::
- Pathogenicity Data:
- Best Score: 0.002
- REMM: 0.002
- Frequency Data:
- gnomAD_G_AFR: 0.0602%
- gnomAD_G_AMR: 0.0981%
- gnomAD_G_EAS: 0.1353%
- gnomAD_G_NFE: 0.2779%
- gnomAD_G_SAS: 0.3106%
- Proximity score 0.502 in interactome to VAMP7 and phenotypic similarity 0.614 to 46,XY partial gonadal dysgenesis associated with VAMP7.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0000771, Gynecomastia
- HP:0006625, Multifocal breast carcinoma - HP:0000771, Gynecomastia
- Known diseases:
- OMIM:603552 Hemophagocytic lymphohistiocytosis, familial, 4 - autosomal recessive
- ORPHA:540 Familial hemophagocytic lymphohistiocytosis - autosomal recessive
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.171 (p=2.1E-1)
Phenotype Score: 0.502
Variant Score: 0.707
- Transcripts:
- STX11:ENST00000367568.5::
- Pathogenicity Data:
- Best Score: 0.749444
- REMM: 0.749
- Frequency Data:
- No frequency data
- Transcripts:
- STX11:ENST00000367568.5::
- Pathogenicity Data:
- Best Score: 0.6676
- REMM: 0.668
- Frequency Data:
- gnomAD_G_AFR: 0.0072%
- gnomAD_G_AMR: 0.0328%
- gnomAD_G_NFE: 0.0368%
- gnomAD_G_SAS: 0.0416%
AUTOSOMAL_DOMINANT
Exomiser Score: 0.022 (p=3.9E-1)
Phenotype Score: 0.251
Variant Score: 0.749
- Transcripts:
- STX11:ENST00000367568.5::
- Pathogenicity Data:
- Best Score: 0.749444
- REMM: 0.749
- Frequency Data:
- No frequency data
- Transcripts:
- STX11:ENST00000367568.5::
- Pathogenicity Data:
- Best Score: 0.556667
- REMM: 0.557
- Frequency Data:
- No frequency data
- Transcripts:
- STX11:ENST00000367568.5::
- Pathogenicity Data:
- Best Score: 0.531399
- REMM: 0.531
- Frequency Data:
- No frequency data
- Transcripts:
- STX11:ENST00000367568.5::
- Pathogenicity Data:
- Best Score: 0.481203
- REMM: 0.481
- Frequency Data:
- gnomAD_G_AFR: 0.0096%
- gnomAD_G_NFE: 0.0559%
- gnomAD_G_SAS: 0.1452%
- Transcripts:
- STX11:ENST00000367568.5:c.-6+5238_-6+5241del:p.(=)
- Pathogenicity Data:
- Best Score: 0.550982
- REMM: 0.551
- Frequency Data:
- UK10K: 0.9389%
- Transcripts:
- STX11:ENST00000367568.5::
- Pathogenicity Data:
- Best Score: 0.389113
- REMM: 0.389
- Frequency Data:
- gnomAD_G_AFR: 0.0120%
- gnomAD_G_AMR: 0.0327%
- gnomAD_G_NFE: 0.0368%
- gnomAD_G_SAS: 0.0416%
- Phenotypic similarity 0.577 to LEOPARD syndrome 3 associated with BRAF.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0006610, Wide intermamillary distance
- HP:0006625, Multifocal breast carcinoma - HP:0006610, Wide intermamillary distance
- Phenotypic similarity 0.329 to mouse mutant involving BRAF.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0000074, abnormal neurocranium morphology
- HP:0006625, Multifocal breast carcinoma - MP:0000074, abnormal neurocranium morphology
- Known diseases:
- OMIM:114500 Colorectal cancer, somatic - autosomal dominant
- OMIM:115150 Cardiofaciocutaneous syndrome - autosomal dominant
- OMIM:155600 Melanoma, malignant, somatic - autosomal dominant
- OMIM:211980 Adenocarcinoma of lung, somatic - autosomal dominant
- OMIM:613706 Noonan syndrome 7 - autosomal dominant
- OMIM:613707 LEOPARD syndrome 3 - autosomal dominant
- ORPHA:1340 Cardiofaciocutaneous syndrome - autosomal dominant
- ORPHA:500 Noonan syndrome with multiple lentigines - autosomal dominant
- ORPHA:626 Large congenital melanocytic nevus (unconfirmed)
- ORPHA:626 Large congenital melanocytic nevus (unconfirmed)
- ORPHA:96253 Cushing disease (unconfirmed)
AUTOSOMAL_DOMINANT
Exomiser Score: 0.168 (p=2.2E-1)
Phenotype Score: 0.577
Variant Score: 0.619
- Phenotype matches to diseases consistent with this MOI:
- Phenotypic similarity 0.577 to OMIM:613707 LEOPARD syndrome 3
- Phenotypic similarity 0.525 to OMIM:613706 Noonan syndrome 7
- Phenotypic similarity 0.525 to OMIM:115150 Cardiofaciocutaneous syndrome
- Phenotypic similarity 0.448 to ORPHA:500 Noonan syndrome with multiple lentigines
- Phenotypic similarity 0.444 to ORPHA:1340 Cardiofaciocutaneous syndrome
- Pathogenicity Data:
- Best Score: 0.62081
- REMM: 0.621
- Frequency Data:
- gnomAD_G_NFE: 0.0015%
- gnomAD_G_SAS: 0.0207%
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.003 (p=6.2E-1)
Phenotype Score: 0.165
Variant Score: 0.612
- Pathogenicity Data:
- Best Score: 0.61227
- REMM: 0.612
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.827156
- REMM: 0.827
- Frequency Data:
- gnomAD_G_AFR: 1.0533%
- gnomAD_G_AMR: 1.1635%
- gnomAD_G_EAS: 1.0884%
- gnomAD_G_NFE: 0.7425%
- gnomAD_G_SAS: 0.4195%
- Pathogenicity Data:
- Best Score: 0.530081
- REMM: 0.530
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.094104
- REMM: 0.094
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.0246917
- REMM: 0.025
- Frequency Data:
- gnomAD_E_EAS: 0.1015%
- gnomAD_G_EAS: 0.0192%
- Pathogenicity Data:
- Best Score: 0.00254286
- REMM: 0.003
- Frequency Data:
- UK10K: 0.0132%
- gnomAD_G_NFE: 0.0029%
- Pathogenicity Data:
- Best Score: 0.0018
- REMM: 0.002
- Frequency Data:
- gnomAD_G_NFE: 0.0015%
- Phenotypic similarity 0.199 to mouse mutant involving PAN2.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0005011, increased eosinophil cell number
- HP:0006625, Multifocal breast carcinoma - MP:0005011, increased eosinophil cell number
- Proximity score 0.501 in interactome to EIF4A2 and phenotypic similarity 0.643 to Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures associated with EIF4A2.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003186, Inverted nipples
- HP:0006625, Multifocal breast carcinoma - HP:0003186, Inverted nipples
AUTOSOMAL_DOMINANT
Exomiser Score: 0.167 (p=2.2E-1)
Phenotype Score: 0.501
Variant Score: 0.704
- Transcripts:
- PAN2:ENST00000440411.8:c.2173-64_2173-63insG:p.(=)
- Pathogenicity Data:
- Best Score: 0.704488
- REMM: 0.704
- Frequency Data:
- No frequency data
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.109 (p=2.6E-1)
Phenotype Score: 0.501
Variant Score: 0.651
- Transcripts:
- PAN2:ENST00000440411.8:c.2173-64_2173-63insG:p.(=)
- Pathogenicity Data:
- Best Score: 0.704488
- REMM: 0.704
- Frequency Data:
- No frequency data
- Transcripts:
- PAN2:ENST00000440411.8:c.802A>C:p.(Lys268Gln)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- UK10K: 0.0264%
- gnomAD_E_AFR: 0.0060%
- gnomAD_E_AMR: 0.0022%
- gnomAD_E_NFE: 0.0052%
- gnomAD_E_SAS: 0.0046%
- gnomAD_G_NFE: 0.0059%
- gnomAD_G_SAS: 0.0207%
- Proximity score 0.502 in interactome to ITGA3 and phenotypic similarity 0.603 to Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome associated with ITGA3.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0000771, Gynecomastia
- HP:0006625, Multifocal breast carcinoma - HP:0000771, Gynecomastia
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.163 (p=2.2E-1)
Phenotype Score: 0.502
Variant Score: 0.701
- Transcripts:
- ITGA2:ENST00000296585.10:c.64+3628T>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.781211
- REMM: 0.781
- Frequency Data:
- UK10K: 0.1587%
- gnomAD_G_AFR: 0.0217%
- gnomAD_G_AMR: 0.0914%
- gnomAD_G_NFE: 0.2808%
- gnomAD_G_SAS: 0.4973%
- Pathogenicity Data:
- Best Score: 0.707016
- REMM: 0.707
- Frequency Data:
- gnomAD_G_AFR: 0.0463%
- gnomAD_G_EAS: 0.0720%
- gnomAD_G_NFE: 0.0288%
- gnomAD_G_SAS: 0.1786%
AUTOSOMAL_DOMINANT
Exomiser Score: 0.035 (p=3.5E-1)
Phenotype Score: 0.502
Variant Score: 0.518
- Transcripts:
- ITGA2:ENST00000296585.10:c.296-726_296-724del:p.(=)
- Pathogenicity Data:
- Best Score: 0.518467
- REMM: 0.518
- Frequency Data:
- No frequency data
- Transcripts:
- ITGA2:ENST00000296585.10:c.192G>C:p.(=)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- gnomAD_E_EAS: 0.0101%
- gnomAD_E_NFE: 0.0004%
- gnomAD_E_SAS: 0.0023%
- gnomAD_G_NFE: 0.0015%
- Transcripts:
- ITGA2:ENST00000296585.10:c.3145-606C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.00257857
- REMM: 0.003
- Frequency Data:
- gnomAD_G_AFR: 0.0048%
- gnomAD_G_AMR: 0.0065%
- gnomAD_G_NFE: 0.0015%
- Proximity score 0.501 in interactome to NUP107 and phenotypic similarity 0.676 to 46,XX gonadal dysgenesis associated with NUP107.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0010311, Aplasia/Hypoplasia of the breasts
- HP:0006625, Multifocal breast carcinoma - HP:0010311, Aplasia/Hypoplasia of the breasts
- Proximity score 0.501 in interactome to NUP107 and phenotypic similarity 0.225 to fish mutant of NUP107.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - ZP:0016453, pharyngeal arch has fewer parts of type chondroblast nuclear pore chondroblast, abnormal
- HP:0006625, Multifocal breast carcinoma - ZP:0016453, pharyngeal arch has fewer parts of type chondroblast nuclear pore chondroblast, abnormal
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.161 (p=2.2E-1)
Phenotype Score: 0.501
Variant Score: 0.699
- Transcripts:
- NUP210:ENST00000254508.7:c.167+968C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.74311
- REMM: 0.743
- Frequency Data:
- UK10K: 0.0132%
- gnomAD_G_AFR: 0.0048%
- gnomAD_G_AMR: 0.2684%
- gnomAD_G_NFE: 0.0853%
- gnomAD_G_SAS: 0.0415%
- Transcripts:
- NUP210:ENST00000254508.7:c.4644+421G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.761048
- REMM: 0.761
- Frequency Data:
- gnomAD_G_AFR: 0.0144%
- gnomAD_G_AMR: 0.5426%
- gnomAD_G_NFE: 0.1455%
- gnomAD_G_SAS: 0.0829%
- Transcripts:
- NUP210:ENST00000254508.7:c.3154G>A:p.(Gly1052Ser)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- UK10K: 0.4761%
- gnomAD_E_AFR: 0.0806%
- gnomAD_E_AMR: 0.1230%
- gnomAD_E_EAS: 0.0050%
- gnomAD_E_NFE: 0.4733%
- gnomAD_E_SAS: 0.4487%
- gnomAD_G_AFR: 0.1059%
- gnomAD_G_AMR: 0.0720%
- gnomAD_G_NFE: 0.4734%
- gnomAD_G_SAS: 0.3523%
- Pathogenicity Data:
- Best Score: 0.797575
- REMM: 0.798
- Frequency Data:
- UK10K: 0.1719%
- gnomAD_G_AFR: 0.0265%
- gnomAD_G_AMR: 0.6811%
- gnomAD_G_EAS: 1.4905%
- gnomAD_G_NFE: 0.2118%
- gnomAD_G_SAS: 1.8695%
- Transcripts:
- NUP210:ENST00000254508.7:c.2329-1167A>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.713239
- REMM: 0.713
- Frequency Data:
- UK10K: 0.1984%
- gnomAD_G_AFR: 0.0241%
- gnomAD_G_AMR: 0.6859%
- gnomAD_G_EAS: 1.4853%
- gnomAD_G_NFE: 0.2117%
- gnomAD_G_SAS: 1.8434%
- Transcripts:
- NUP210:ENST00000254508.7:c.3844-699A>T:p.(=)
- Pathogenicity Data:
- Best Score: 7.14286E-4
- REMM: 0.001
- Frequency Data:
- UK10K: 0.4761%
- gnomAD_G_AFR: 0.1011%
- gnomAD_G_AMR: 0.0589%
- gnomAD_G_NFE: 0.4528%
- gnomAD_G_SAS: 0.3731%
- Transcripts:
- NUP210:ENST00000254508.7:c.168-7415C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- UK10K: 0.2116%
- gnomAD_G_AFR: 0.0265%
- gnomAD_G_AMR: 0.7777%
- gnomAD_G_EAS: 1.5058%
- gnomAD_G_NFE: 0.2234%
- gnomAD_G_SAS: 1.9518%
- Proximity score 0.503 in interactome to FASLG and phenotypic similarity 0.876 to Autoimmune lymphoproliferative syndrome associated with FASLG.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0010619, Fibroadenoma of the breast
- HP:0006625, Multifocal breast carcinoma - HP:0010619, Fibroadenoma of the breast
- Proximity score 0.503 in interactome to FASLG and phenotypic similarity 0.220 to mouse mutant of FASLG.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0001541, abnormal osteoclast physiology
- HP:0006625, Multifocal breast carcinoma - MP:0001541, abnormal osteoclast physiology
- Proximity score 0.503 in interactome to FASLG and phenotypic similarity 0.300 to fish mutant of FASLG.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - ZP:0000627, notochord bent, abnormal
- HP:0006625, Multifocal breast carcinoma - ZP:0000627, notochord bent, abnormal
AUTOSOMAL_DOMINANT
Exomiser Score: 0.160 (p=2.2E-1)
Phenotype Score: 0.503
Variant Score: 0.697
- Pathogenicity Data:
- Best Score: 0.696971
- REMM: 0.697
- Frequency Data:
- No frequency data
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.146 (p=2.3E-1)
Phenotype Score: 0.503
Variant Score: 0.685
- Pathogenicity Data:
- Best Score: 0.696971
- REMM: 0.697
- Frequency Data:
- No frequency data
- Transcripts:
- MAP2K3:ENST00000342679.9:c.774+1196T>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.706318
- REMM: 0.706
- Frequency Data:
- gnomAD_G_AFR: 0.0937%
- gnomAD_G_AMR: 0.0968%
- gnomAD_G_EAS: 0.2935%
- gnomAD_G_NFE: 0.0517%
- gnomAD_G_SAS: 0.1882%
- Transcripts:
- MAP2K3:ENST00000342679.9::
- Pathogenicity Data:
- Best Score: 0.669612
- REMM: 0.670
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.638523
- REMM: 0.639
- Frequency Data:
- No frequency data
- Transcripts:
- MAP2K3:ENST00000342679.9:c.50-624_50-623insCGG:p.(=)
- Pathogenicity Data:
- Best Score: 0.584088
- REMM: 0.584
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.566487
- REMM: 0.566
- Frequency Data:
- No frequency data
- Transcripts:
- MAP2K3:ENST00000342679.9:c.774+1568T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.557974
- REMM: 0.558
- Frequency Data:
- No frequency data
- Transcripts:
- MAP2K3:ENST00000342679.9:c.774+3437C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.528104
- REMM: 0.528
- Frequency Data:
- No frequency data
- Transcripts:
- MAP2K3:ENST00000342679.9:c.775-3418A>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.514183
- REMM: 0.514
- Frequency Data:
- No frequency data
- Transcripts:
- MAP2K3:ENST00000342679.9::
- Pathogenicity Data:
- Best Score: 0.496339
- REMM: 0.496
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.481954
- REMM: 0.482
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.439666
- REMM: 0.440
- Frequency Data:
- gnomAD_G_AFR: 0.0089%
- gnomAD_G_AMR: 0.0127%
- gnomAD_G_EAS: 0.0357%
- gnomAD_G_NFE: 0.0079%
- Transcripts:
- MAP2K3:ENST00000342679.9::
- Pathogenicity Data:
- Best Score: 0.411196
- REMM: 0.411
- Frequency Data:
- No frequency data
- Transcripts:
- MAP2K3:ENST00000342679.9::
- Pathogenicity Data:
- Best Score: 0.36478
- REMM: 0.365
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.209017
- REMM: 0.209
- Frequency Data:
- No frequency data
- Transcripts:
- MAP2K3:ENST00000342679.9::
- Pathogenicity Data:
- Best Score: 0.166791
- REMM: 0.167
- Frequency Data:
- No frequency data
- Transcripts:
- MAP2K3:ENST00000342679.9::
- Pathogenicity Data:
- Best Score: 0.125813
- REMM: 0.126
- Frequency Data:
- No frequency data
- Transcripts:
- MAP2K3:ENST00000342679.9:c.774+492_774+498del:p.(=)
- Pathogenicity Data:
- Best Score: 0.0748635
- REMM: 0.075
- Frequency Data:
- No frequency data
- Transcripts:
- MAP2K3:ENST00000342679.9::
- Pathogenicity Data:
- Best Score: 0.0633159
- REMM: 0.063
- Frequency Data:
- No frequency data
- Transcripts:
- MAP2K3:ENST00000342679.9::
- Pathogenicity Data:
- Best Score: 0.0507671
- REMM: 0.051
- Frequency Data:
- No frequency data
- Transcripts:
- MAP2K3:ENST00000342679.9::
- Pathogenicity Data:
- Best Score: 0.03725
- REMM: 0.037
- Frequency Data:
- No frequency data
- Transcripts:
- MAP2K3:ENST00000342679.9::
- Pathogenicity Data:
- Best Score: 0.0346512
- REMM: 0.035
- Frequency Data:
- No frequency data
- Transcripts:
- MAP2K3:ENST00000342679.9::
- Pathogenicity Data:
- Best Score: 0.0336052
- REMM: 0.034
- Frequency Data:
- No frequency data
- Transcripts:
- MAP2K3:ENST00000342679.9:c.774+1186T>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0234861
- REMM: 0.023
- Frequency Data:
- gnomAD_G_AFR: 0.0398%
- gnomAD_G_AMR: 0.0609%
- gnomAD_G_EAS: 0.1855%
- gnomAD_G_NFE: 0.0320%
- gnomAD_G_SAS: 0.1245%
- Transcripts:
- MAP2K3:ENST00000342679.9:c.774+1017C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0139917
- REMM: 0.014
- Frequency Data:
- No frequency data
- Transcripts:
- MAP2K3:ENST00000342679.9:c.697-145C>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.00945794
- REMM: 0.009
- Frequency Data:
- No frequency data
- Transcripts:
- MAP2K3:ENST00000342679.9:c.774+1067G>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.00890238
- REMM: 0.009
- Frequency Data:
- No frequency data
- Transcripts:
- MAP2K3:ENST00000342679.9:c.774+1288G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.00844286
- REMM: 0.008
- Frequency Data:
- No frequency data
- Transcripts:
- MAP2K3:ENST00000342679.9:c.774+1298A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.00822063
- REMM: 0.008
- Frequency Data:
- No frequency data
- Transcripts:
- MAP2K3:ENST00000342679.9:c.774+1179G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.00706905
- REMM: 0.007
- Frequency Data:
- gnomAD_G_AFR: 0.0460%
- gnomAD_G_AMR: 0.0460%
- gnomAD_G_EAS: 0.1630%
- gnomAD_G_NFE: 0.0220%
- gnomAD_G_SAS: 0.0765%
- Transcripts:
- MAP2K3:ENST00000342679.9:c.774+943G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.00668175
- REMM: 0.007
- Frequency Data:
- No frequency data
- Transcripts:
- MAP2K3:ENST00000342679.9::
- Pathogenicity Data:
- Best Score: 0.00590317
- REMM: 0.006
- Frequency Data:
- No frequency data
- Transcripts:
- MAP2K3:ENST00000342679.9:c.774+1090A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.00556508
- REMM: 0.006
- Frequency Data:
- No frequency data
- Transcripts:
- MAP2K3:ENST00000342679.9:c.774+929C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.00450794
- REMM: 0.005
- Frequency Data:
- No frequency data
- Transcripts:
- MAP2K3:ENST00000342679.9:c.774+1609A>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.00400397
- REMM: 0.004
- Frequency Data:
- No frequency data
- Transcripts:
- MAP2K3:ENST00000342679.9:c.774+1599C>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.00322063
- REMM: 0.003
- Frequency Data:
- No frequency data
- Transcripts:
- MAP2K3:ENST00000342679.9:c.774+1127T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.00250794
- REMM: 0.003
- Frequency Data:
- No frequency data
- Transcripts:
- MAP2K3:ENST00000342679.9:c.775-3319T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.002125
- REMM: 0.002
- Frequency Data:
- No frequency data
- Transcripts:
- MAP2K3:ENST00000342679.9:c.774+979C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0019381
- REMM: 0.002
- Frequency Data:
- No frequency data
- Transcripts:
- MAP2K3:ENST00000342679.9:c.774+1137G>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.00141071
- REMM: 0.001
- Frequency Data:
- No frequency data
- Transcripts:
- MAP2K3:ENST00000342679.9:c.774+3464T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.00133333
- REMM: 0.001
- Frequency Data:
- No frequency data
- Transcripts:
- MAP2K3:ENST00000342679.9:c.774+442T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.00129524
- REMM: 0.001
- Frequency Data:
- No frequency data
- Transcripts:
- MAP2K3:ENST00000342679.9::
- Pathogenicity Data:
- Best Score: 0.0012
- REMM: 0.001
- Frequency Data:
- No frequency data
- Transcripts:
- MAP2K3:ENST00000342679.9:c.774+1601C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.00115397
- REMM: 0.001
- Frequency Data:
- gnomAD_G_AFR: 0.0078%
- gnomAD_G_NFE: 0.0015%
- Transcripts:
- MAP2K3:ENST00000342679.9::
- Pathogenicity Data:
- Best Score: 0.001125
- REMM: 0.001
- Frequency Data:
- No frequency data
- Transcripts:
- MAP2K3:ENST00000342679.9::
- Pathogenicity Data:
- Best Score: 8.0E-4
- REMM: 0.001
- Frequency Data:
- No frequency data
- Transcripts:
- MAP2K3:ENST00000342679.9:c.774+1769T>C:p.(=)
- Pathogenicity Data:
- Best Score: 7.53968E-4
- REMM: 0.001
- Frequency Data:
- No frequency data
- Transcripts:
- MAP2K3:ENST00000342679.9:c.775-3194T>C:p.(=)
- Pathogenicity Data:
- Best Score: 4.58333E-4
- REMM: 0.000
- Frequency Data:
- No frequency data
- Transcripts:
- MAP2K3:ENST00000342679.9:c.774+880A>G:p.(=)
- Pathogenicity Data:
- Best Score: 4.10714E-4
- REMM: 0.000
- Frequency Data:
- No frequency data
- Transcripts:
- MAP2K3:ENST00000342679.9:c.774+881G>A:p.(=)
- Pathogenicity Data:
- Best Score: 4.10714E-4
- REMM: 0.000
- Frequency Data:
- No frequency data
- Transcripts:
- MAP2K3:ENST00000342679.9:c.774+1613G>C:p.(=)
- Pathogenicity Data:
- Best Score: 3.75E-4
- REMM: 0.000
- Frequency Data:
- No frequency data
- Transcripts:
- MAP2K3:ENST00000342679.9:c.775-3320G>T:p.(=)
- Pathogenicity Data:
- Best Score: 1.25E-4
- REMM: 0.000
- Frequency Data:
- No frequency data
- Transcripts:
- MAP2K3:ENST00000342679.9:c.774+1563G>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- No frequency data
- Transcripts:
- MAP2K3:ENST00000342679.9:c.775-3500G>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- No frequency data
- Transcripts:
- MAP2K3:ENST00000342679.9:c.775-3282A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- No frequency data
- Phenotypic similarity 0.471 to Septopreoptic holoprosencephaly associated with CDON.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0000772, Abnormal rib morphology
- HP:0006625, Multifocal breast carcinoma - HP:0000772, Abnormal rib morphology
- Phenotypic similarity 0.330 to mouse mutant involving CDON.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0000440, domed cranium
- HP:0006625, Multifocal breast carcinoma - MP:0000440, domed cranium
- Proximity score 0.502 in interactome to GLI2 and phenotypic similarity 0.676 to Combined pituitary hormone deficiencies, genetic forms associated with GLI2.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0010311, Aplasia/Hypoplasia of the breasts
- HP:0006625, Multifocal breast carcinoma - HP:0010311, Aplasia/Hypoplasia of the breasts
- Proximity score 0.502 in interactome to GLI2 and phenotypic similarity 0.336 to mouse mutant of GLI2.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0004174, abnormal spine curvature
- HP:0006625, Multifocal breast carcinoma - MP:0004174, abnormal spine curvature
- Proximity score 0.502 in interactome to GLI2 and phenotypic similarity 0.280 to fish mutant of GLI2.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - ZP:0000645, chondrocranium morphology, abnormal
- HP:0006625, Multifocal breast carcinoma - ZP:0000645, chondrocranium morphology, abnormal
- Known diseases:
- OMIM:614226 Holoprosencephaly 11 - autosomal dominant
- ORPHA:220386 Semilobar holoprosencephaly - polygenic
- ORPHA:280195 Septopreoptic holoprosencephaly - polygenic
- ORPHA:280200 Microform holoprosencephaly - polygenic
- ORPHA:93924 Lobar holoprosencephaly - polygenic
- ORPHA:93925 Alobar holoprosencephaly - polygenic
- ORPHA:93926 Midline interhemispheric variant of holoprosencephaly - polygenic
AUTOSOMAL_DOMINANT
Exomiser Score: 0.156 (p=2.2E-1)
Phenotype Score: 0.502
Variant Score: 0.695
- Transcripts:
- CDON:ENST00000531738.6:c.2996-647_2996-642del:p.(=)
- Pathogenicity Data:
- Best Score: 0.694793
- REMM: 0.695
- Frequency Data:
- No frequency data
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.002 (p=6.4E-1)
Phenotype Score: 0.251
Variant Score: 0.492
- Transcripts:
- CDON:ENST00000531738.6:c.2996-647_2996-642del:p.(=)
- Pathogenicity Data:
- Best Score: 0.694793
- REMM: 0.695
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.330071
- REMM: 0.330
- Frequency Data:
- gnomAD_G_AFR: 0.6546%
- gnomAD_G_AMR: 0.2616%
- gnomAD_G_EAS: 0.0763%
- gnomAD_G_NFE: 0.0846%
- gnomAD_G_SAS: 0.0537%
- Transcripts:
- CDON:ENST00000531738.6:c.2362+506_2362+507del:p.(=)
- Pathogenicity Data:
- Best Score: 0.134
- REMM: 0.134
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.118814
- REMM: 0.119
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.103888
- REMM: 0.104
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.092577
- REMM: 0.093
- Frequency Data:
- No frequency data
- Transcripts:
- CDON:ENST00000531738.6:c.3356+7053G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0709437
- REMM: 0.071
- Frequency Data:
- gnomAD_G_AFR: 0.0362%
- gnomAD_G_AMR: 0.0458%
- gnomAD_G_EAS: 0.1939%
- gnomAD_G_NFE: 0.0088%
- gnomAD_G_SAS: 0.0209%
- Transcripts:
- CDON:ENST00000531738.6:c.-61-17481C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.00356944
- REMM: 0.004
- Frequency Data:
- gnomAD_G_EAS: 0.1383%
- Transcripts:
- CDON:ENST00000531738.6:c.2996-415T>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.00255238
- REMM: 0.003
- Frequency Data:
- UK10K: 1.4150%
- gnomAD_G_AFR: 0.2311%
- gnomAD_G_AMR: 0.8771%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 1.1661%
- gnomAD_G_SAS: 0.6642%
- Phenotypic similarity 0.514 to Typical nemaline myopathy associated with NEB.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0000774, Narrow chest
- HP:0006625, Multifocal breast carcinoma - HP:0000774, Narrow chest
- Phenotypic similarity 0.368 to mouse mutant involving NEB.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0000160, kyphosis
- HP:0006625, Multifocal breast carcinoma - MP:0000160, kyphosis
- Proximity score 0.506 in interactome to DES and phenotypic similarity 0.614 to Scapuloperoneal syndrome, neurogenic, Kaeser type associated with DES.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0000771, Gynecomastia
- HP:0006625, Multifocal breast carcinoma - HP:0000771, Gynecomastia
- Known diseases:
- OMIM:256030 Nemaline myopathy 2, autosomal recessive - autosomal recessive
- OMIM:619334 Arthrogryposis multiplex congenita 6 - autosomal recessive
- ORPHA:171430 Severe congenital nemaline myopathy - autosomal recessive
- ORPHA:171433 Intermediate nemaline myopathy - autosomal recessive
- ORPHA:171436 Typical nemaline myopathy - autosomal recessive
- ORPHA:171439 Childhood-onset nemaline myopathy - autosomal recessive
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.155 (p=2.2E-1)
Phenotype Score: 0.514
Variant Score: 0.681
- Phenotype matches to diseases consistent with this MOI:
- Phenotypic similarity 0.514 to ORPHA:171436 Typical nemaline myopathy
- Phenotypic similarity 0.504 to ORPHA:171433 Intermediate nemaline myopathy
- Phenotypic similarity 0.504 to ORPHA:171439 Childhood-onset nemaline myopathy
- Phenotypic similarity 0.496 to ORPHA:171430 Severe congenital nemaline myopathy
- Phenotypic similarity 0.484 to OMIM:256030 Nemaline myopathy 2, autosomal recessive
- Pathogenicity Data:
- Best Score: 0.709054
- REMM: 0.709
- Frequency Data:
- UK10K: 0.0132%
- gnomAD_G_NFE: 0.0059%
- gnomAD_G_SAS: 0.0622%
- Pathogenicity Data:
- Best Score: 0.659013
- REMM: 0.659
- Frequency Data:
- No frequency data
AUTOSOMAL_DOMINANT
Exomiser Score: 0.015 (p=4.3E-1)
Phenotype Score: 0.253
Variant Score: 0.703
- Pathogenicity Data:
- Best Score: 0.709054
- REMM: 0.709
- Frequency Data:
- UK10K: 0.0132%
- gnomAD_G_NFE: 0.0059%
- gnomAD_G_SAS: 0.0622%
- Pathogenicity Data:
- Best Score: 0.618129
- REMM: 0.618
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.517384
- REMM: 0.517
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- gnomAD_E_AFR: 0.0060%
- gnomAD_E_AMR: 0.0359%
- gnomAD_E_EAS: 0.0025%
- gnomAD_E_NFE: 0.0126%
- gnomAD_E_SAS: 0.8605%
- gnomAD_G_AFR: 0.0024%
- gnomAD_G_AMR: 0.0196%
- gnomAD_G_EAS: 0.0194%
- gnomAD_G_NFE: 0.0250%
- gnomAD_G_SAS: 0.8132%
- Pathogenicity Data:
- Best Score: 0.465783
- REMM: 0.466
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.30771
- REMM: 0.308
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.242065
- REMM: 0.242
- Frequency Data:
- gnomAD_G_AFR: 0.7518%
- gnomAD_G_AMR: 0.0993%
- gnomAD_G_EAS: 0.1514%
- gnomAD_G_NFE: 0.0523%
- gnomAD_G_SAS: 0.2759%
- Pathogenicity Data:
- Best Score: 0.134247
- REMM: 0.134
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.129812
- REMM: 0.130
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.129812
- REMM: 0.130
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- gnomAD_E_NFE: 0.0008%
- Pathogenicity Data:
- Best Score: 0.0162151
- REMM: 0.016
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.00697778
- REMM: 0.007
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.00545833
- REMM: 0.005
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.00488056
- REMM: 0.005
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.00380317
- REMM: 0.004
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.00308889
- REMM: 0.003
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 4.58333E-4
- REMM: 0.000
- Frequency Data:
- No frequency data
- Phenotypic similarity 0.321 to mouse mutant involving IQSEC3.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0010124, decreased bone mineral content
- HP:0006625, Multifocal breast carcinoma - MP:0010124, decreased bone mineral content
- Proximity score 0.502 in interactome to DCC and phenotypic similarity 0.620 to Kallmann syndrome associated with DCC.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003187, Breast hypoplasia
- HP:0006625, Multifocal breast carcinoma - HP:0003187, Breast hypoplasia
- Proximity score 0.502 in interactome to DCC and phenotypic similarity 0.268 to mouse mutant of DCC.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0002417, abnormal megakaryocyte morphology
- HP:0006625, Multifocal breast carcinoma - MP:0002417, abnormal megakaryocyte morphology
AUTOSOMAL_DOMINANT
Exomiser Score: 0.155 (p=2.2E-1)
Phenotype Score: 0.502
Variant Score: 0.694
- Transcripts:
- IQSEC3:ENST00000538872.6::
- Pathogenicity Data:
- Best Score: 0.694393
- REMM: 0.694
- Frequency Data:
- No frequency data
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.112 (p=2.5E-1)
Phenotype Score: 0.502
Variant Score: 0.653
- Transcripts:
- IQSEC3:ENST00000538872.6::
- Pathogenicity Data:
- Best Score: 0.694393
- REMM: 0.694
- Frequency Data:
- No frequency data
- Transcripts:
- IQSEC3:ENST00000538872.6::
- Pathogenicity Data:
- Best Score: 0.612549
- REMM: 0.613
- Frequency Data:
- No frequency data
- Transcripts:
- IQSEC3:ENST00000538872.6::
- Pathogenicity Data:
- Best Score: 0.542313
- REMM: 0.542
- Frequency Data:
- gnomAD_G_AFR: 0.0024%
- gnomAD_G_SAS: 0.1039%
- Transcripts:
- IQSEC3:ENST00000538872.6:c.-81G>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.530467
- REMM: 0.530
- Frequency Data:
- No frequency data
- Transcripts:
- IQSEC3:ENST00000538872.6:c.555-2886G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.444923
- REMM: 0.445
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.335652
- REMM: 0.336
- Frequency Data:
- No frequency data
- Transcripts:
- IQSEC3:ENST00000538872.6:c.554+10479C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.70203
- REMM: 0.702
- Frequency Data:
- gnomAD_G_AFR: 0.2738%
- gnomAD_G_AMR: 0.5709%
- gnomAD_G_EAS: 0.0395%
- gnomAD_G_NFE: 1.5964%
- gnomAD_G_SAS: 0.5537%
- Transcripts:
- IQSEC3:ENST00000538872.6:c.2584-118del:p.(=)
- Pathogenicity Data:
- Best Score: 0.330065
- REMM: 0.330
- Frequency Data:
- gnomAD_G_AFR: 0.3774%
- gnomAD_G_AMR: 0.1477%
- gnomAD_G_EAS: 0.3030%
- gnomAD_G_NFE: 0.2876%
- Transcripts:
- IQSEC3:ENST00000538872.6::
- Pathogenicity Data:
- Best Score: 0.30569
- REMM: 0.306
- Frequency Data:
- No frequency data
- Transcripts:
- IQSEC3:ENST00000538872.6:c.554+10170G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.225482
- REMM: 0.225
- Frequency Data:
- No frequency data
- Transcripts:
- IQSEC3:ENST00000538872.6::
- Pathogenicity Data:
- Best Score: 0.219637
- REMM: 0.220
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.227553
- REMM: 0.228
- Frequency Data:
- gnomAD_G_AFR: 0.3091%
- gnomAD_G_AMR: 0.1944%
- gnomAD_G_EAS: 0.3650%
- gnomAD_G_NFE: 0.4558%
- Transcripts:
- IQSEC3:ENST00000538872.6::
- Pathogenicity Data:
- Best Score: 0.169816
- REMM: 0.170
- Frequency Data:
- No frequency data
- Transcripts:
- IQSEC3:ENST00000538872.6::
- Pathogenicity Data:
- Best Score: 0.161307
- REMM: 0.161
- Frequency Data:
- No frequency data
- Transcripts:
- IQSEC3:ENST00000538872.6::
- Pathogenicity Data:
- Best Score: 0.155727
- REMM: 0.156
- Frequency Data:
- No frequency data
- Transcripts:
- IQSEC3:ENST00000538872.6::
- Pathogenicity Data:
- Best Score: 0.14052
- REMM: 0.141
- Frequency Data:
- No frequency data
- Transcripts:
- IQSEC3:ENST00000538872.6:c.623+4638T>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.12809
- REMM: 0.128
- Frequency Data:
- No frequency data
- Transcripts:
- IQSEC3:ENST00000538872.6::
- Pathogenicity Data:
- Best Score: 0.0993865
- REMM: 0.099
- Frequency Data:
- No frequency data
- Transcripts:
- IQSEC3:ENST00000538872.6:c.623+4588C>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0873758
- REMM: 0.087
- Frequency Data:
- No frequency data
- Transcripts:
- IQSEC3:ENST00000538872.6:c.2584-127C>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0928821
- REMM: 0.093
- Frequency Data:
- gnomAD_G_AFR: 0.2715%
- gnomAD_G_AMR: 0.1775%
- gnomAD_G_EAS: 0.3236%
- gnomAD_G_NFE: 0.3715%
- Transcripts:
- IQSEC3:ENST00000538872.6::
- Pathogenicity Data:
- Best Score: 0.0511028
- REMM: 0.051
- Frequency Data:
- No frequency data
- Transcripts:
- IQSEC3:ENST00000538872.6::
- Pathogenicity Data:
- Best Score: 0.0354698
- REMM: 0.035
- Frequency Data:
- No frequency data
- Transcripts:
- IQSEC3:ENST00000538872.6::
- Pathogenicity Data:
- Best Score: 0.0351948
- REMM: 0.035
- Frequency Data:
- No frequency data
- Transcripts:
- IQSEC3:ENST00000538872.6::
- Pathogenicity Data:
- Best Score: 0.00128571
- REMM: 0.001
- Frequency Data:
- No frequency data
- Transcripts:
- IQSEC3:ENST00000538872.6::
- Pathogenicity Data:
- Best Score: 0.00116667
- REMM: 0.001
- Frequency Data:
- No frequency data
- Transcripts:
- IQSEC3:ENST00000538872.6:c.2154-5976C>T:p.(=)
- Pathogenicity Data:
- Best Score: 6.98413E-4
- REMM: 0.001
- Frequency Data:
- No frequency data
- Transcripts:
- IQSEC3:ENST00000538872.6::
- Pathogenicity Data:
- Best Score: 2.85714E-4
- REMM: 0.000
- Frequency Data:
- No frequency data
- Transcripts:
- IQSEC3:ENST00000538872.6::
- Pathogenicity Data:
- Best Score: 2.85714E-4
- REMM: 0.000
- Frequency Data:
- No frequency data
- Transcripts:
- IQSEC3:ENST00000538872.6::
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- No frequency data
- Transcripts:
- IQSEC3:ENST00000538872.6::
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- No frequency data
- Transcripts:
- IQSEC3:ENST00000538872.6:c.554+4838C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- No frequency data
- Transcripts:
- IQSEC3:ENST00000538872.6:c.554+4928A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- No frequency data
- Transcripts:
- IQSEC3:ENST00000538872.6:c.554+5604T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- No frequency data
- Phenotypic similarity 0.425 to Periventricular nodular heterotopia associated with NEDD4L.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003834, Shoulder dislocation
- HP:0006625, Multifocal breast carcinoma - HP:0003834, Shoulder dislocation
- Proximity score 0.503 in interactome to TGFBR2 and phenotypic similarity 0.998 to Lynch syndrome associated with TGFBR2.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003002, Breast carcinoma
- HP:0006625, Multifocal breast carcinoma - HP:0003002, Breast carcinoma
- Proximity score 0.503 in interactome to TGFBR2 and phenotypic similarity 0.368 to mouse mutant of TGFBR2.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0000160, kyphosis
- HP:0006625, Multifocal breast carcinoma - MP:0000160, kyphosis
- Known diseases:
- OMIM:617201 Periventricular nodular heterotopia 7 - autosomal dominant
- ORPHA:98892 Periventricular nodular heterotopia - autosomal dominant
AUTOSOMAL_DOMINANT
Exomiser Score: 0.152 (p=2.3E-1)
Phenotype Score: 0.503
Variant Score: 0.690
- Phenotype matches to diseases consistent with this MOI:
- Phenotypic similarity 0.425 to ORPHA:98892 Periventricular nodular heterotopia
- Transcripts:
- NEDD4L:ENST00000400345.8:c.297+30106A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.690054
- REMM: 0.690
- Frequency Data:
- No frequency data
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.011 (p=4.6E-1)
Phenotype Score: 0.251
Variant Score: 0.673
- Transcripts:
- NEDD4L:ENST00000400345.8:c.297+30106A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.690054
- REMM: 0.690
- Frequency Data:
- No frequency data
- Transcripts:
- NEDD4L:ENST00000400345.8:c.204+167del:p.(=)
- Pathogenicity Data:
- Best Score: 0.655932
- REMM: 0.656
- Frequency Data:
- No frequency data
- Transcripts:
- NEDD4L:ENST00000400345.8:c.28T>A:p.(Tyr10Asn)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- gnomAD_E_NFE: 0.0003%
- gnomAD_E_SAS: 0.0012%
- Transcripts:
- NEDD4L:ENST00000400345.8:c.297+8574G>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.551371
- REMM: 0.551
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.542004
- REMM: 0.542
- Frequency Data:
- No frequency data
- Transcripts:
- NEDD4L:ENST00000400345.8::
- Pathogenicity Data:
- Best Score: 0.521063
- REMM: 0.521
- Frequency Data:
- gnomAD_G_AFR: 0.0096%
- gnomAD_G_AMR: 0.0589%
- gnomAD_G_NFE: 0.0441%
- gnomAD_G_SAS: 0.0207%
- Pathogenicity Data:
- Best Score: 0.557976
- REMM: 0.558
- Frequency Data:
- UK10K: 0.2380%
- gnomAD_G_AFR: 0.0289%
- gnomAD_G_AMR: 0.6208%
- gnomAD_G_NFE: 0.3395%
- gnomAD_G_SAS: 0.1449%
- Pathogenicity Data:
- Best Score: 0.452368
- REMM: 0.452
- Frequency Data:
- No frequency data
- Transcripts:
- NEDD4L:ENST00000400345.8:c.*1925del:p.(=)
- Pathogenicity Data:
- Best Score: 0.350662
- REMM: 0.351
- Frequency Data:
- No frequency data
- Transcripts:
- NEDD4L:ENST00000400345.8::
- Pathogenicity Data:
- Best Score: 0.456514
- REMM: 0.457
- Frequency Data:
- UK10K: 0.5686%
- gnomAD_G_AFR: 0.1084%
- gnomAD_G_AMR: 0.8240%
- gnomAD_G_EAS: 0.0386%
- gnomAD_G_NFE: 0.6086%
- gnomAD_G_SAS: 1.3699%
- Pathogenicity Data:
- Best Score: 0.236632
- REMM: 0.237
- Frequency Data:
- No frequency data
- Transcripts:
- NEDD4L:ENST00000400345.8:c.123-36187T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.142303
- REMM: 0.142
- Frequency Data:
- No frequency data
- Transcripts:
- NEDD4L:ENST00000400345.8:c.48+18280del:p.(=)
- Pathogenicity Data:
- Best Score: 0.135361
- REMM: 0.135
- Frequency Data:
- No frequency data
- Transcripts:
- NEDD4L:ENST00000400345.8:c.123-20994G>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.139459
- REMM: 0.139
- Frequency Data:
- UK10K: 0.2777%
- gnomAD_G_AFR: 0.0938%
- gnomAD_G_AMR: 0.1308%
- gnomAD_G_NFE: 0.4395%
- Pathogenicity Data:
- Best Score: 0.19597
- REMM: 0.196
- Frequency Data:
- gnomAD_G_AFR: 0.0717%
- gnomAD_G_AMR: 0.1082%
- gnomAD_G_EAS: 0.1319%
- gnomAD_G_NFE: 0.2476%
- gnomAD_G_SAS: 1.3624%
- Pathogenicity Data:
- Best Score: 0.108067
- REMM: 0.108
- Frequency Data:
- No frequency data
- Transcripts:
- NEDD4L:ENST00000400345.8:c.411-316A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.101648
- REMM: 0.102
- Frequency Data:
- No frequency data
- Transcripts:
- NEDD4L:ENST00000400345.8::
- Pathogenicity Data:
- Best Score: 0.54728
- REMM: 0.547
- Frequency Data:
- UK10K: 1.2563%
- gnomAD_G_AFR: 0.2190%
- gnomAD_G_AMR: 0.8434%
- gnomAD_G_EAS: 0.0963%
- gnomAD_G_NFE: 1.4494%
- gnomAD_G_SAS: 1.9510%
- Transcripts:
- NEDD4L:ENST00000400345.8:c.48+14686C>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0639425
- REMM: 0.064
- Frequency Data:
- UK10K: 0.0793%
- gnomAD_G_AFR: 0.0164%
- gnomAD_G_AMR: 0.1192%
- gnomAD_G_EAS: 0.0386%
- gnomAD_G_NFE: 0.1692%
- gnomAD_G_SAS: 0.0831%
- Transcripts:
- NEDD4L:ENST00000400345.8:c.123-36214A>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0248063
- REMM: 0.025
- Frequency Data:
- No frequency data
- Transcripts:
- NEDD4L:ENST00000400345.8:c.49-35799G>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0196202
- REMM: 0.020
- Frequency Data:
- No frequency data
- Transcripts:
- NEDD4L:ENST00000400345.8:c.1125+2633A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.00769841
- REMM: 0.008
- Frequency Data:
- UK10K: 0.2248%
- gnomAD_G_AFR: 0.0361%
- gnomAD_G_AMR: 0.6665%
- gnomAD_G_NFE: 0.3645%
- gnomAD_G_SAS: 0.1036%
- Pathogenicity Data:
- Best Score: 0.0029
- REMM: 0.003
- Frequency Data:
- No frequency data
- Transcripts:
- NEDD4L:ENST00000400345.8:c.122+11041G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.00288611
- REMM: 0.003
- Frequency Data:
- UK10K: 0.0397%
- gnomAD_G_AFR: 0.0024%
- gnomAD_G_AMR: 0.0523%
- gnomAD_G_NFE: 0.0529%
- gnomAD_G_SAS: 0.3934%
- Transcripts:
- NEDD4L:ENST00000400345.8:c.49-60299C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0061119
- REMM: 0.006
- Frequency Data:
- UK10K: 0.8199%
- gnomAD_G_AFR: 0.1348%
- gnomAD_G_AMR: 0.9809%
- gnomAD_G_EAS: 0.0771%
- gnomAD_G_NFE: 0.8279%
- gnomAD_G_SAS: 1.7464%
- Transcripts:
- NEDD4L:ENST00000400345.8:c.122+12694G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.00137778
- REMM: 0.001
- Frequency Data:
- UK10K: 0.0529%
- gnomAD_G_AFR: 0.0024%
- gnomAD_G_AMR: 0.0523%
- gnomAD_G_EAS: 0.2119%
- gnomAD_G_NFE: 0.0588%
- gnomAD_G_SAS: 0.4148%
- Pathogenicity Data:
- Best Score: 0.001125
- REMM: 0.001
- Frequency Data:
- No frequency data
- Transcripts:
- NEDD4L:ENST00000400345.8:c.297+24162T>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.001125
- REMM: 0.001
- Frequency Data:
- No frequency data
- Transcripts:
- NEDD4L:ENST00000400345.8:c.49-39723C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.00111111
- REMM: 0.001
- Frequency Data:
- UK10K: 0.4628%
- gnomAD_G_AFR: 0.0361%
- gnomAD_G_AMR: 0.0915%
- gnomAD_G_NFE: 0.3543%
- gnomAD_G_SAS: 0.0622%
- Transcripts:
- NEDD4L:ENST00000400345.8:c.49-6558T>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- gnomAD_G_AFR: 0.0097%
- gnomAD_G_AMR: 0.0524%
- gnomAD_G_NFE: 0.0603%
- gnomAD_G_SAS: 0.4170%
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- No frequency data
- Proximity score 0.502 in interactome to ITGA3 and phenotypic similarity 0.603 to Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome associated with ITGA3.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0000771, Gynecomastia
- HP:0006625, Multifocal breast carcinoma - HP:0000771, Gynecomastia
- Known diseases:
- OMIM:224050 Cerebellar hypoplasia, impaired intellectual development, and dysequilibrium syndrome 1 - autosomal recessive
- ORPHA:1766 Dysequilibrium syndrome - autosomal recessive
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.150 (p=2.3E-1)
Phenotype Score: 0.502
Variant Score: 0.690
- Transcripts:
- VLDLR:ENST00000382100.8:c.*3102del:p.(=)
- Pathogenicity Data:
- Best Score: 0.690249
- REMM: 0.690
- Frequency Data:
- No frequency data
- Transcripts:
- VLDLR:ENST00000382100.8:c.*3099_*3102del:p.(=)
- Pathogenicity Data:
- Best Score: 0.690249
- REMM: 0.690
- Frequency Data:
- No frequency data
AUTOSOMAL_DOMINANT
Exomiser Score: 0.013 (p=4.4E-1)
Phenotype Score: 0.251
Variant Score: 0.690
- Transcripts:
- VLDLR:ENST00000382100.8:c.*3102del:p.(=)
- Pathogenicity Data:
- Best Score: 0.690249
- REMM: 0.690
- Frequency Data:
- No frequency data
- Transcripts:
- VLDLR:ENST00000382100.8:c.920C>T:p.(Ser307Phe)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- gnomAD_E_EAS: 0.0025%
- Pathogenicity Data:
- Best Score: 0.261677
- REMM: 0.262
- Frequency Data:
- No frequency data
- Proximity score 0.501 in interactome to PRKAR1A and phenotypic similarity 0.915 to Carney complex associated with PRKAR1A.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0100013, Neoplasm of the breast
- HP:0006625, Multifocal breast carcinoma - HP:0100013, Neoplasm of the breast
- Proximity score 0.501 in interactome to PRKAR1A and phenotypic similarity 0.332 to mouse mutant of PRKAR1A.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0002116, abnormal craniofacial bone morphology
- HP:0006625, Multifocal breast carcinoma - MP:0002116, abnormal craniofacial bone morphology
AUTOSOMAL_DOMINANT
Exomiser Score: 0.148 (p=2.3E-1)
Phenotype Score: 0.501
Variant Score: 0.689
- Pathogenicity Data:
- Best Score: 0.688814
- REMM: 0.689
- Frequency Data:
- No frequency data
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.052 (p=3.2E-1)
Phenotype Score: 0.501
Variant Score: 0.563
- Pathogenicity Data:
- Best Score: 0.688814
- REMM: 0.689
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.438171
- REMM: 0.438
- Frequency Data:
- No frequency data
- Transcripts:
- AKAP10:ENST00000225737.11:c.89-1523T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.710169
- REMM: 0.710
- Frequency Data:
- UK10K: 1.4282%
- gnomAD_G_AFR: 0.2215%
- gnomAD_G_AMR: 1.4450%
- gnomAD_G_NFE: 1.4620%
- gnomAD_G_SAS: 0.1864%
- Pathogenicity Data:
- Best Score: 0.17433
- REMM: 0.174
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.169565
- REMM: 0.170
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.148175
- REMM: 0.148
- Frequency Data:
- gnomAD_G_EAS: 0.7407%
- gnomAD_G_NFE: 0.1037%
- Transcripts:
- AKAP10:ENST00000225737.11:c.1641+195G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- UK10K: 1.0844%
- gnomAD_G_AFR: 0.1760%
- gnomAD_G_AMR: 0.6482%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 0.7664%
- gnomAD_G_SAS: 0.0831%
- Phenotypic similarity 0.587 to Hyperphosphatasia-intellectual disability syndrome associated with PIGW.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0002558, Supernumerary nipple
- HP:0006625, Multifocal breast carcinoma - HP:0002558, Supernumerary nipple
- Proximity score 0.501 in interactome to PIGN and phenotypic similarity 0.613 to Fryns syndrome associated with PIGN.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0006709, Aplasia/Hypoplasia of the nipples
- HP:0006625, Multifocal breast carcinoma - HP:0006709, Aplasia/Hypoplasia of the nipples
- Proximity score 0.501 in interactome to PIGN and phenotypic similarity 0.334 to mouse mutant of PIGN.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0004384, small interparietal bone
- HP:0006625, Multifocal breast carcinoma - MP:0004384, small interparietal bone
- Known diseases:
- OMIM:616025 Glycosylphosphatidylinositol biosynthesis defect 11 - autosomal recessive
- ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome - autosomal recessive
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.147 (p=2.3E-1)
Phenotype Score: 0.587
Variant Score: 0.591
- Phenotype matches to diseases consistent with this MOI:
- Phenotypic similarity 0.587 to ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome
- Transcripts:
- PIGW:ENST00000614443.2:c.606_608del:p.(Leu203del)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- gnomAD_E_NFE: 0.0004%
- Transcripts:
- PIGW:ENST00000614443.2:c.-8-570_-8-569insTT:p.(=)
- Pathogenicity Data:
- Best Score: 0.332367
- REMM: 0.332
- Frequency Data:
- No frequency data
AUTOSOMAL_DOMINANT
Exomiser Score: 0.053 (p=3.2E-1)
Phenotype Score: 0.250
Variant Score: 0.850
- Transcripts:
- PIGW:ENST00000614443.2:c.606_608del:p.(Leu203del)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- gnomAD_E_NFE: 0.0004%
- Phenotypic similarity 0.635 to Congenital disorder of glycosylation, type Il associated with ALG9.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003186, Inverted nipples
- HP:0006625, Multifocal breast carcinoma - HP:0003186, Inverted nipples
- Proximity score 0.509 in interactome to ALG12 and phenotypic similarity 0.643 to ALG12-CDG associated with ALG12.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003186, Inverted nipples
- HP:0006625, Multifocal breast carcinoma - HP:0003186, Inverted nipples
- Known diseases:
- OMIM:263210 Gillessen-Kaesbach-Nishimura syndrome - autosomal recessive
- OMIM:608776 Congenital disorder of glycosylation, type Il - autosomal recessive
- ORPHA:730 Autosomal dominant polycystic kidney disease - autosomal dominant
- ORPHA:79328 ALG9-CDG - autosomal recessive
- ORPHA:79328 ALG9-CDG - autosomal recessive
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.145 (p=2.3E-1)
Phenotype Score: 0.635
Variant Score: 0.534
- Phenotype matches to diseases consistent with this MOI:
- Phenotypic similarity 0.635 to OMIM:608776 Congenital disorder of glycosylation, type Il
- Phenotypic similarity 0.635 to ORPHA:79328 ALG9-CDG
- Transcripts:
- ALG9:ENST00000616540.5:c.702-528del:p.(=)
- Pathogenicity Data:
- Best Score: 0.569392
- REMM: 0.569
- Frequency Data:
- No frequency data
- Transcripts:
- ALG9:ENST00000616540.5:c.702-949A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.534548
- REMM: 0.535
- Frequency Data:
- UK10K: 0.0264%
- gnomAD_G_AFR: 0.0240%
- gnomAD_G_AMR: 0.3985%
- gnomAD_G_NFE: 0.0897%
- gnomAD_G_SAS: 0.0414%
AUTOSOMAL_DOMINANT
Exomiser Score: 0.059 (p=3.1E-1)
Phenotype Score: 0.509
Variant Score: 0.569
- Transcripts:
- ALG9:ENST00000616540.5:c.702-528del:p.(=)
- Pathogenicity Data:
- Best Score: 0.569392
- REMM: 0.569
- Frequency Data:
- No frequency data
- Transcripts:
- ALG9:ENST00000616540.5:c.132-17T>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.760319
- REMM: 0.760
- Frequency Data:
- gnomAD_E_AFR: 0.3230%
- gnomAD_E_AMR: 0.8497%
- gnomAD_E_EAS: 0.1325%
- gnomAD_E_NFE: 1.3185%
- gnomAD_E_SAS: 0.3157%
- gnomAD_G_AFR: 0.2160%
- gnomAD_G_AMR: 1.1721%
- gnomAD_G_EAS: 0.0194%
- gnomAD_G_NFE: 1.5268%
- gnomAD_G_SAS: 0.3970%
- Proximity score 0.502 in interactome to POLR3H and phenotypic similarity 0.676 to 46,XX gonadal dysgenesis associated with POLR3H.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0010311, Aplasia/Hypoplasia of the breasts
- HP:0006625, Multifocal breast carcinoma - HP:0010311, Aplasia/Hypoplasia of the breasts
- Known diseases:
- OMIM:128230 Dystonia, DOPA-responsive - autosomal dominant/recessive
- OMIM:233910 Hyperphenylalaninemia, BH4-deficient, B - autosomal recessive
- ORPHA:98808 Autosomal dominant dopa-responsive dystonia - autosomal dominant/recessive
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.144 (p=2.3E-1)
Phenotype Score: 0.502
Variant Score: 0.685
- Transcripts:
- GCH1:ENST00000491895.7::
- Pathogenicity Data:
- Best Score: 0.685087
- REMM: 0.685
- Frequency Data:
- No frequency data
AUTOSOMAL_DOMINANT
Exomiser Score: 0.099 (p=2.7E-1)
Phenotype Score: 0.502
Variant Score: 0.638
- Pathogenicity Data:
- Best Score: 0.637821
- REMM: 0.638
- Frequency Data:
- No frequency data
- Transcripts:
- GCH1:ENST00000491895.7:c.344-941T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.631369
- REMM: 0.631
- Frequency Data:
- gnomAD_G_NFE: 0.0059%
- Transcripts:
- GCH1:ENST00000491895.7:c.344-14549del:p.(=)
- Pathogenicity Data:
- Best Score: 0.568077
- REMM: 0.568
- Frequency Data:
- No frequency data
- Transcripts:
- GCH1:ENST00000491895.7:c.344-17963del:p.(=)
- Pathogenicity Data:
- Best Score: 0.41274
- REMM: 0.413
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.323113
- REMM: 0.323
- Frequency Data:
- gnomAD_G_AFR: 0.6401%
- gnomAD_G_AMR: 0.0509%
- gnomAD_G_NFE: 0.0193%
- gnomAD_G_SAS: 0.1498%
- Pathogenicity Data:
- Best Score: 0.193587
- REMM: 0.194
- Frequency Data:
- gnomAD_G_AFR: 0.4689%
- gnomAD_G_AMR: 0.0654%
- gnomAD_G_NFE: 0.0187%
- gnomAD_G_SAS: 0.1151%
- Pathogenicity Data:
- Best Score: 0.178885
- REMM: 0.179
- Frequency Data:
- gnomAD_G_AFR: 0.6103%
- gnomAD_G_AMR: 0.0757%
- gnomAD_G_EAS: 0.0868%
- gnomAD_G_NFE: 0.0381%
- gnomAD_G_SAS: 0.0512%
- Transcripts:
- GCH1:ENST00000491895.7:c.344-5778G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.199158
- REMM: 0.199
- Frequency Data:
- UK10K: 0.0397%
- gnomAD_G_AFR: 0.0048%
- gnomAD_G_AMR: 0.0261%
- gnomAD_G_NFE: 0.0735%
- gnomAD_G_SAS: 1.2023%
- Transcripts:
- GCH1:ENST00000491895.7:c.344-13985del:p.(=)
- Pathogenicity Data:
- Best Score: 0.134299
- REMM: 0.134
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.132581
- REMM: 0.133
- Frequency Data:
- gnomAD_G_AFR: 0.0460%
- Pathogenicity Data:
- Best Score: 0.131557
- REMM: 0.132
- Frequency Data:
- gnomAD_G_AFR: 0.1052%
- gnomAD_G_AMR: 0.3650%
- gnomAD_G_NFE: 0.3923%
- Transcripts:
- GCH1:ENST00000491895.7:c.510-4450G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.168014
- REMM: 0.168
- Frequency Data:
- UK10K: 0.1851%
- gnomAD_G_AFR: 0.0529%
- gnomAD_G_AMR: 0.3725%
- gnomAD_G_NFE: 0.2734%
- gnomAD_G_SAS: 1.3278%
- Pathogenicity Data:
- Best Score: 0.129578
- REMM: 0.130
- Frequency Data:
- gnomAD_G_AFR: 1.7909%
- gnomAD_G_AMR: 0.8614%
- gnomAD_G_EAS: 0.1323%
- gnomAD_G_NFE: 0.3575%
- gnomAD_G_SAS: 0.8079%
- Pathogenicity Data:
- Best Score: 0.129116
- REMM: 0.129
- Frequency Data:
- gnomAD_G_AFR: 1.9596%
- gnomAD_G_AMR: 0.3261%
- gnomAD_G_EAS: 0.9901%
- gnomAD_G_NFE: 0.5257%
- gnomAD_G_SAS: 1.4591%
- Transcripts:
- GCH1:ENST00000491895.7:c.*367G>A:p.(=)
- Pathogenicity Data:
- Best Score: 3.33333E-4
- REMM: 0.000
- Frequency Data:
- gnomAD_E_AMR: 0.0092%
- gnomAD_E_NFE: 0.0090%
- gnomAD_E_SAS: 0.0026%
- gnomAD_G_AMR: 0.0065%
- gnomAD_G_NFE: 0.0103%
- Phenotypic similarity 0.577 to Agenesis of corpus callosum, cardiac, ocular, and genital syndrome associated with CDH2.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0002558, Supernumerary nipple
- HP:0006625, Multifocal breast carcinoma - HP:0002558, Supernumerary nipple
- Phenotypic similarity 0.276 to zebrafish mutant involving CDH2.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - ZP:0010131, cartilage element pectoral fin bud disorganized, abnormal
- HP:0006625, Multifocal breast carcinoma - ZP:0010131, cartilage element pectoral fin bud disorganized, abnormal
- Proximity score 0.505 in interactome to TWIST1 and phenotypic similarity 0.998 to Saethre-Chotzen syndrome with or without eyelid anomalies associated with TWIST1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003002, Breast carcinoma
- HP:0006625, Multifocal breast carcinoma - HP:0003002, Breast carcinoma
- Proximity score 0.505 in interactome to TWIST1 and phenotypic similarity 0.356 to mouse mutant of TWIST1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0000137, abnormal vertebrae morphology
- HP:0006625, Multifocal breast carcinoma - MP:0000137, abnormal vertebrae morphology
- Proximity score 0.505 in interactome to TWIST1 and phenotypic similarity 0.257 to fish mutant of TWIST1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - ZP:0007632, notochord absent, abnormal
- HP:0006625, Multifocal breast carcinoma - ZP:0007632, notochord absent, abnormal
- Known diseases:
- OMIM:618920 Arrhythmogenic right ventricular dysplasia 14 - autosomal dominant
- OMIM:618929 Agenesis of corpus callosum, cardiac, ocular, and genital syndrome - autosomal dominant
- OMIM:619957 ?Attention deficit-hyperactivity disorder 8 (unconfirmed)
AUTOSOMAL_DOMINANT
Exomiser Score: 0.144 (p=2.3E-1)
Phenotype Score: 0.577
Variant Score: 0.600
- Phenotype matches to diseases consistent with this MOI:
- Phenotypic similarity 0.577 to OMIM:618929 Agenesis of corpus callosum, cardiac, ocular, and genital syndrome
- Transcripts:
- CDH2:ENST00000269141.8:c.190A>C:p.(Asn64His)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- gnomAD_E_NFE: 0.0014%
- gnomAD_G_NFE: 0.0029%
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.132 (p=2.4E-1)
Phenotype Score: 0.505
Variant Score: 0.671
- Transcripts:
- CDH2:ENST00000269141.8:c.173-63982del:p.(=)
- Pathogenicity Data:
- Best Score: 0.670808
- REMM: 0.671
- Frequency Data:
- No frequency data
- Transcripts:
- CDH2:ENST00000269141.8:c.172+13537del:p.(=)
- Pathogenicity Data:
- Best Score: 0.480085
- REMM: 0.480
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.480085
- REMM: 0.480
- Frequency Data:
- No frequency data
- Transcripts:
- CDH2:ENST00000269141.8:c.61-8748G>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.297404
- REMM: 0.297
- Frequency Data:
- No frequency data
- Transcripts:
- CDH2:ENST00000269141.8:c.61-8745G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.293103
- REMM: 0.293
- Frequency Data:
- No frequency data
- Transcripts:
- CDH2:ENST00000269141.8:c.61-8943A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.329087
- REMM: 0.329
- Frequency Data:
- gnomAD_G_AFR: 1.7775%
- gnomAD_G_AMR: 1.6063%
- gnomAD_G_EAS: 0.3205%
- gnomAD_G_NFE: 1.4371%
- gnomAD_G_SAS: 0.8838%
- Transcripts:
- CDH2:ENST00000269141.8:c.703-571_703-570insT:p.(=)
- Pathogenicity Data:
- Best Score: 0.1649
- REMM: 0.165
- Frequency Data:
- gnomAD_G_AFR: 1.7362%
- gnomAD_G_AMR: 0.2915%
- gnomAD_G_EAS: 0.2951%
- gnomAD_G_NFE: 0.2038%
- gnomAD_G_SAS: 0.5806%
- Transcripts:
- CDH2:ENST00000269141.8:c.61-8899G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0570302
- REMM: 0.057
- Frequency Data:
- gnomAD_G_AFR: 0.0213%
- gnomAD_G_EAS: 0.0498%
- gnomAD_G_NFE: 0.0147%
- Transcripts:
- CDH2:ENST00000269141.8:c.172+3178T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.0450861
- REMM: 0.045
- Frequency Data:
- No frequency data
- Transcripts:
- CDH2:ENST00000269141.8:c.1021-2162A>G:p.(=)
- Pathogenicity Data:
- Best Score: 6.66667E-4
- REMM: 0.001
- Frequency Data:
- No frequency data
- Transcripts:
- CDH2:ENST00000269141.8:c.173-5496G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- gnomAD_G_NFE: 0.0015%
- Phenotypic similarity 0.620 to Kallmann syndrome associated with SEMA3A.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003187, Breast hypoplasia
- HP:0006625, Multifocal breast carcinoma - HP:0003187, Breast hypoplasia
- Phenotypic similarity 0.363 to mouse mutant involving SEMA3A.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0000150, abnormal rib morphology
- HP:0006625, Multifocal breast carcinoma - MP:0000150, abnormal rib morphology
- Proximity score 0.508 in interactome to PLXND1 and phenotypic similarity 0.643 to Moebius syndrome associated with PLXND1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0100783, Breast aplasia
- HP:0006625, Multifocal breast carcinoma - HP:0100783, Breast aplasia
- Proximity score 0.508 in interactome to PLXND1 and phenotypic similarity 0.356 to mouse mutant of PLXND1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0000141, abnormal vertebral body morphology
- HP:0006625, Multifocal breast carcinoma - MP:0000141, abnormal vertebral body morphology
- Known diseases:
- OMIM:614897 Hypogonadotropic hypogonadism 16 with or without anosmia (susceptibility)
- ORPHA:130 Brugada syndrome - autosomal dominant
- ORPHA:478 Kallmann syndrome - autosomal dominant
AUTOSOMAL_DOMINANT
Exomiser Score: 0.140 (p=2.3E-1)
Phenotype Score: 0.620
Variant Score: 0.548
- Phenotype matches to diseases consistent with this MOI:
- Phenotypic similarity 0.620 to ORPHA:478 Kallmann syndrome
- Pathogenicity Data:
- Best Score: 0.547863
- REMM: 0.548
- Frequency Data:
- No frequency data
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.003 (p=6.0E-1)
Phenotype Score: 0.254
Variant Score: 0.529
- Pathogenicity Data:
- Best Score: 0.547863
- REMM: 0.548
- Frequency Data:
- No frequency data
- Transcripts:
- SEMA3A:ENST00000265362.9:c.454-23484C>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.745227
- REMM: 0.745
- Frequency Data:
- UK10K: 0.4099%
- gnomAD_G_AFR: 0.8361%
- gnomAD_G_AMR: 0.3809%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 0.4916%
- gnomAD_G_SAS: 1.2033%
- Transcripts:
- SEMA3A:ENST00000265362.9:c.453+11409A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.492798
- REMM: 0.493
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.473454
- REMM: 0.473
- Frequency Data:
- No frequency data
- Transcripts:
- SEMA3A:ENST00000265362.9:c.453+18287A>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.882662
- REMM: 0.883
- Frequency Data:
- UK10K: 0.4099%
- gnomAD_G_AFR: 1.5129%
- gnomAD_G_AMR: 0.4970%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 0.5174%
- gnomAD_G_SAS: 1.2417%
- Pathogenicity Data:
- Best Score: 0.494826
- REMM: 0.495
- Frequency Data:
- gnomAD_G_AFR: 0.4301%
- gnomAD_G_AMR: 0.1083%
- gnomAD_G_NFE: 0.0364%
- gnomAD_G_SAS: 0.1162%
- Transcripts:
- SEMA3A:ENST00000265362.9:c.454-1122C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.945044
- REMM: 0.945
- Frequency Data:
- UK10K: 0.3967%
- gnomAD_G_AFR: 1.5980%
- gnomAD_G_AMR: 0.4130%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 0.4884%
- gnomAD_G_SAS: 1.5774%
- Pathogenicity Data:
- Best Score: 0.400975
- REMM: 0.401
- Frequency Data:
- No frequency data
- Transcripts:
- SEMA3A:ENST00000265362.9:c.333+396C>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.598615
- REMM: 0.599
- Frequency Data:
- UK10K: 0.4232%
- gnomAD_G_AFR: 0.7754%
- gnomAD_G_AMR: 0.4256%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 0.5074%
- gnomAD_G_SAS: 1.2671%
- Transcripts:
- SEMA3A:ENST00000265362.9:c.667+15336del:p.(=)
- Pathogenicity Data:
- Best Score: 0.385946
- REMM: 0.386
- Frequency Data:
- No frequency data
- Transcripts:
- SEMA3A:ENST00000265362.9:c.453+15535A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.53652
- REMM: 0.537
- Frequency Data:
- UK10K: 0.4099%
- gnomAD_G_AFR: 0.8434%
- gnomAD_G_AMR: 0.4077%
- gnomAD_G_EAS: 0.0194%
- gnomAD_G_NFE: 0.5151%
- gnomAD_G_SAS: 1.2225%
- Pathogenicity Data:
- Best Score: 0.343773
- REMM: 0.344
- Frequency Data:
- No frequency data
- Transcripts:
- SEMA3A:ENST00000265362.9:c.334-9200A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.577883
- REMM: 0.578
- Frequency Data:
- UK10K: 0.4232%
- gnomAD_G_AFR: 1.4340%
- gnomAD_G_AMR: 0.5558%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 0.5104%
- gnomAD_G_SAS: 1.2661%
- Pathogenicity Data:
- Best Score: 0.324671
- REMM: 0.325
- Frequency Data:
- No frequency data
- Transcripts:
- SEMA3A:ENST00000265362.9:c.454-22770A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.325453
- REMM: 0.325
- Frequency Data:
- UK10K: 0.0529%
- gnomAD_G_AFR: 0.0072%
- gnomAD_G_AMR: 0.0327%
- gnomAD_G_NFE: 0.0324%
- gnomAD_G_SAS: 0.0414%
- Pathogenicity Data:
- Best Score: 0.289983
- REMM: 0.290
- Frequency Data:
- No frequency data
- Transcripts:
- SEMA3A:ENST00000265362.9:c.113-11695T>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.610619
- REMM: 0.611
- Frequency Data:
- UK10K: 0.4232%
- gnomAD_G_AFR: 0.7744%
- gnomAD_G_AMR: 0.4576%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 0.5102%
- gnomAD_G_SAS: 1.5942%
- Pathogenicity Data:
- Best Score: 0.593473
- REMM: 0.593
- Frequency Data:
- UK10K: 0.4232%
- gnomAD_G_AFR: 0.6447%
- gnomAD_G_AMR: 0.4379%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 0.5101%
- gnomAD_G_SAS: 1.5955%
- Pathogenicity Data:
- Best Score: 0.502845
- REMM: 0.503
- Frequency Data:
- UK10K: 0.3967%
- gnomAD_G_AFR: 0.7382%
- gnomAD_G_AMR: 0.2943%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 0.4956%
- gnomAD_G_SAS: 1.4901%
- Transcripts:
- SEMA3A:ENST00000265362.9:c.454-8925G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.504794
- REMM: 0.505
- Frequency Data:
- UK10K: 0.4232%
- gnomAD_G_AFR: 0.0675%
- gnomAD_G_AMR: 0.2293%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 0.4723%
- gnomAD_G_SAS: 1.5346%
- Transcripts:
- SEMA3A:ENST00000265362.9:c.454-22028A>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.48286
- REMM: 0.483
- Frequency Data:
- UK10K: 0.4099%
- gnomAD_G_AFR: 1.5138%
- gnomAD_G_AMR: 0.4709%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 0.4929%
- gnomAD_G_SAS: 1.2428%
- Pathogenicity Data:
- Best Score: 0.228576
- REMM: 0.229
- Frequency Data:
- No frequency data
- Transcripts:
- SEMA3A:ENST00000265362.9:c.113-10500A>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.450924
- REMM: 0.451
- Frequency Data:
- UK10K: 0.4232%
- gnomAD_G_AFR: 0.7730%
- gnomAD_G_AMR: 0.4647%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 0.5133%
- gnomAD_G_SAS: 1.5547%
- Pathogenicity Data:
- Best Score: 0.191442
- REMM: 0.191
- Frequency Data:
- UK10K: 0.0661%
- Pathogenicity Data:
- Best Score: 0.178842
- REMM: 0.179
- Frequency Data:
- No frequency data
- Transcripts:
- SEMA3A:ENST00000265362.9:c.454-19171T>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.178151
- REMM: 0.178
- Frequency Data:
- No frequency data
- Transcripts:
- SEMA3A:ENST00000265362.9:c.113-15360G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.183399
- REMM: 0.183
- Frequency Data:
- gnomAD_G_AFR: 0.1924%
- gnomAD_G_AMR: 0.3528%
- gnomAD_G_NFE: 0.7247%
- gnomAD_G_SAS: 0.4351%
- Transcripts:
- SEMA3A:ENST00000265362.9:c.454-1967C>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.330466
- REMM: 0.330
- Frequency Data:
- gnomAD_G_AFR: 1.5923%
- gnomAD_G_AMR: 0.4117%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 0.4880%
- gnomAD_G_SAS: 1.5748%
- Pathogenicity Data:
- Best Score: 0.180989
- REMM: 0.181
- Frequency Data:
- gnomAD_G_AFR: 0.7876%
- gnomAD_G_AMR: 0.2813%
- gnomAD_G_NFE: 0.4196%
- gnomAD_G_SAS: 0.6000%
- Pathogenicity Data:
- Best Score: 0.143347
- REMM: 0.143
- Frequency Data:
- No frequency data
- Transcripts:
- SEMA3A:ENST00000265362.9:c.113-23928T>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.513245
- REMM: 0.513
- Frequency Data:
- UK10K: 1.2034%
- gnomAD_G_AFR: 1.3832%
- gnomAD_G_AMR: 1.0800%
- gnomAD_G_EAS: 0.0387%
- gnomAD_G_NFE: 1.2445%
- gnomAD_G_SAS: 1.8660%
- Transcripts:
- SEMA3A:ENST00000265362.9:c.454-19219A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.10895
- REMM: 0.109
- Frequency Data:
- No frequency data
- Transcripts:
- SEMA3A:ENST00000265362.9:c.454-2305T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.140137
- REMM: 0.140
- Frequency Data:
- gnomAD_G_AFR: 1.0175%
- gnomAD_G_AMR: 0.5463%
- gnomAD_G_EAS: 0.3155%
- gnomAD_G_NFE: 0.4458%
- gnomAD_G_SAS: 0.8653%
- Pathogenicity Data:
- Best Score: 0.112306
- REMM: 0.112
- Frequency Data:
- gnomAD_G_AFR: 0.5790%
- gnomAD_G_AMR: 0.2019%
- gnomAD_G_NFE: 0.2753%
- gnomAD_G_SAS: 0.5348%
- Pathogenicity Data:
- Best Score: 0.306373
- REMM: 0.306
- Frequency Data:
- UK10K: 0.8199%
- gnomAD_G_AFR: 1.1819%
- gnomAD_G_AMR: 1.1833%
- gnomAD_G_EAS: 0.8111%
- gnomAD_G_NFE: 1.0899%
- gnomAD_G_SAS: 1.8342%
- Pathogenicity Data:
- Best Score: 0.0784262
- REMM: 0.078
- Frequency Data:
- No frequency data
- Transcripts:
- SEMA3A:ENST00000265362.9:c.1453-7539T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.0749036
- REMM: 0.075
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.0744083
- REMM: 0.074
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.071881
- REMM: 0.072
- Frequency Data:
- gnomAD_G_AFR: 0.0166%
- gnomAD_G_AMR: 0.0161%
- gnomAD_G_NFE: 0.0531%
- Transcripts:
- SEMA3A:ENST00000265362.9:c.454-2513A>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.130022
- REMM: 0.130
- Frequency Data:
- gnomAD_G_AFR: 0.9551%
- gnomAD_G_AMR: 0.3403%
- gnomAD_G_EAS: 0.0196%
- gnomAD_G_NFE: 0.4736%
- gnomAD_G_SAS: 1.4910%
- Transcripts:
- SEMA3A:ENST00000265362.9:c.113-2220G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.127053
- REMM: 0.127
- Frequency Data:
- UK10K: 0.4496%
- gnomAD_G_AFR: 1.4993%
- gnomAD_G_AMR: 0.5435%
- gnomAD_G_EAS: 0.0194%
- gnomAD_G_NFE: 0.5120%
- gnomAD_G_SAS: 1.2479%
- Pathogenicity Data:
- Best Score: 0.109163
- REMM: 0.109
- Frequency Data:
- gnomAD_G_AFR: 1.1744%
- gnomAD_G_AMR: 0.3715%
- gnomAD_G_NFE: 0.5504%
- gnomAD_G_SAS: 1.3889%
- Transcripts:
- SEMA3A:ENST00000265362.9:c.453+19315C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0862901
- REMM: 0.086
- Frequency Data:
- gnomAD_G_AFR: 1.3474%
- gnomAD_G_AMR: 0.5224%
- gnomAD_G_EAS: 0.1094%
- gnomAD_G_NFE: 0.3593%
- gnomAD_G_SAS: 0.6281%
- Transcripts:
- SEMA3A:ENST00000265362.9:c.548-3907G>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.0872393
- REMM: 0.087
- Frequency Data:
- gnomAD_G_AFR: 0.0698%
- gnomAD_G_AMR: 0.2355%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 0.4910%
- gnomAD_G_SAS: 1.5327%
- Transcripts:
- SEMA3A:ENST00000265362.9:c.454-4699G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.049494
- REMM: 0.049
- Frequency Data:
- gnomAD_G_AFR: 0.4895%
- gnomAD_G_AMR: 0.1259%
- gnomAD_G_EAS: 0.1365%
- gnomAD_G_NFE: 0.2594%
- gnomAD_G_SAS: 0.6414%
- Transcripts:
- SEMA3A:ENST00000265362.9:c.454-4083A>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.0287901
- REMM: 0.029
- Frequency Data:
- No frequency data
- Transcripts:
- SEMA3A:ENST00000265362.9:c.454-3688G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0540579
- REMM: 0.054
- Frequency Data:
- gnomAD_G_AFR: 0.9428%
- gnomAD_G_AMR: 0.3405%
- gnomAD_G_EAS: 0.0194%
- gnomAD_G_NFE: 0.4825%
- gnomAD_G_SAS: 1.5768%
- Transcripts:
- SEMA3A:ENST00000265362.9:c.454-5872C>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0269317
- REMM: 0.027
- Frequency Data:
- gnomAD_G_AFR: 0.7364%
- gnomAD_G_AMR: 0.2430%
- gnomAD_G_EAS: 0.0222%
- gnomAD_G_NFE: 0.3971%
- gnomAD_G_SAS: 0.7937%
- Transcripts:
- SEMA3A:ENST00000265362.9:c.454-11907C>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0207913
- REMM: 0.021
- Frequency Data:
- No frequency data
- Transcripts:
- SEMA3A:ENST00000265362.9:c.454-5809C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.036579
- REMM: 0.037
- Frequency Data:
- gnomAD_G_AFR: 0.9283%
- gnomAD_G_AMR: 0.3228%
- gnomAD_G_EAS: 0.0195%
- gnomAD_G_NFE: 0.4698%
- gnomAD_G_SAS: 1.4520%
- Transcripts:
- SEMA3A:ENST00000265362.9:c.454-6363G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0223532
- REMM: 0.022
- Frequency Data:
- gnomAD_G_AFR: 0.1925%
- gnomAD_G_AMR: 0.3528%
- gnomAD_G_NFE: 0.7380%
- gnomAD_G_SAS: 0.5191%
- Transcripts:
- SEMA3A:ENST00000265362.9:c.547+4269C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0367587
- REMM: 0.037
- Frequency Data:
- UK10K: 0.3967%
- gnomAD_G_AFR: 0.0723%
- gnomAD_G_AMR: 0.2365%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 0.4966%
- gnomAD_G_SAS: 1.5240%
- Transcripts:
- SEMA3A:ENST00000265362.9:c.454-3293A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0354266
- REMM: 0.035
- Frequency Data:
- gnomAD_G_AFR: 0.9699%
- gnomAD_G_AMR: 0.2915%
- gnomAD_G_EAS: 0.0199%
- gnomAD_G_NFE: 0.4740%
- gnomAD_G_SAS: 1.5388%
- Pathogenicity Data:
- Best Score: 0.0160754
- REMM: 0.016
- Frequency Data:
- No frequency data
- Transcripts:
- SEMA3A:ENST00000265362.9:c.454-6987C>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.032396
- REMM: 0.032
- Frequency Data:
- gnomAD_G_AFR: 0.9505%
- gnomAD_G_AMR: 0.3473%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 0.4824%
- gnomAD_G_SAS: 1.5625%
- Transcripts:
- SEMA3A:ENST00000265362.9:c.454-6988T>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.027771
- REMM: 0.028
- Frequency Data:
- gnomAD_G_AFR: 0.9510%
- gnomAD_G_AMR: 0.3466%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 0.4822%
- gnomAD_G_SAS: 1.5560%
- Transcripts:
- SEMA3A:ENST00000265362.9:c.454-6362C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0223528
- REMM: 0.022
- Frequency Data:
- gnomAD_G_AFR: 0.8884%
- gnomAD_G_AMR: 0.3083%
- gnomAD_G_EAS: 0.0194%
- gnomAD_G_NFE: 0.4563%
- gnomAD_G_SAS: 1.3536%
- Transcripts:
- SEMA3A:ENST00000265362.9:c.1452+7727C>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0134341
- REMM: 0.013
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.0130901
- REMM: 0.013
- Frequency Data:
- No frequency data
- Transcripts:
- SEMA3A:ENST00000265362.9:c.454-2268G>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.0191774
- REMM: 0.019
- Frequency Data:
- UK10K: 0.4099%
- gnomAD_G_AFR: 1.4525%
- gnomAD_G_AMR: 0.3766%
- gnomAD_G_EAS: 0.0198%
- gnomAD_G_NFE: 0.4217%
- gnomAD_G_SAS: 0.9212%
- Transcripts:
- SEMA3A:ENST00000265362.9:c.454-5097T>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.01565
- REMM: 0.016
- Frequency Data:
- gnomAD_G_AFR: 0.8704%
- gnomAD_G_AMR: 0.3274%
- gnomAD_G_EAS: 0.0194%
- gnomAD_G_NFE: 0.4415%
- gnomAD_G_SAS: 1.3158%
- Transcripts:
- SEMA3A:ENST00000265362.9:c.548-5479C>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.011606
- REMM: 0.012
- Frequency Data:
- gnomAD_G_AFR: 0.2045%
- gnomAD_G_AMR: 0.3471%
- gnomAD_G_EAS: 0.0198%
- gnomAD_G_NFE: 0.8371%
- gnomAD_G_SAS: 0.7582%
- Transcripts:
- SEMA3A:ENST00000265362.9:c.454-2976C>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0164667
- REMM: 0.016
- Frequency Data:
- gnomAD_G_AFR: 0.8706%
- gnomAD_G_AMR: 0.3107%
- gnomAD_G_EAS: 0.0199%
- gnomAD_G_NFE: 0.4569%
- gnomAD_G_SAS: 1.4687%
- Transcripts:
- SEMA3A:ENST00000265362.9:c.454-2919G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0144655
- REMM: 0.014
- Frequency Data:
- gnomAD_G_AFR: 0.8480%
- gnomAD_G_AMR: 0.3097%
- gnomAD_G_EAS: 0.0596%
- gnomAD_G_NFE: 0.4462%
- gnomAD_G_SAS: 1.3664%
- Transcripts:
- SEMA3A:ENST00000265362.9:c.454-5199G>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.0138278
- REMM: 0.014
- Frequency Data:
- gnomAD_G_AFR: 0.8957%
- gnomAD_G_AMR: 0.3139%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 0.4544%
- gnomAD_G_SAS: 1.3502%
- Transcripts:
- SEMA3A:ENST00000265362.9:c.334-1113C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0122012
- REMM: 0.012
- Frequency Data:
- UK10K: 0.4232%
- gnomAD_G_AFR: 1.4936%
- gnomAD_G_AMR: 0.5558%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 0.5102%
- gnomAD_G_SAS: 1.2640%
- Transcripts:
- SEMA3A:ENST00000265362.9:c.454-3094A>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.0128238
- REMM: 0.013
- Frequency Data:
- gnomAD_G_AFR: 0.9844%
- gnomAD_G_AMR: 0.3477%
- gnomAD_G_EAS: 0.0197%
- gnomAD_G_NFE: 0.4832%
- gnomAD_G_SAS: 1.5836%
- Transcripts:
- SEMA3A:ENST00000265362.9:c.454-6228G>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.0103754
- REMM: 0.010
- Frequency Data:
- gnomAD_G_AFR: 0.8772%
- gnomAD_G_AMR: 0.8019%
- gnomAD_G_EAS: 0.6602%
- gnomAD_G_NFE: 0.4866%
- gnomAD_G_SAS: 1.4429%
- Transcripts:
- SEMA3A:ENST00000265362.9:c.454-7539G>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.00417262
- REMM: 0.004
- Frequency Data:
- No frequency data
- Transcripts:
- SEMA3A:ENST00000265362.9:c.547+5657A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.00395595
- REMM: 0.004
- Frequency Data:
- No frequency data
- Transcripts:
- SEMA3A:ENST00000265362.9:c.454-19662A>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.00338016
- REMM: 0.003
- Frequency Data:
- No frequency data
- Transcripts:
- SEMA3A:ENST00000265362.9:c.113-9930G>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.00590357
- REMM: 0.006
- Frequency Data:
- UK10K: 0.4232%
- gnomAD_G_AFR: 0.7727%
- gnomAD_G_AMR: 0.4580%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 0.5148%
- gnomAD_G_SAS: 1.5742%
- Transcripts:
- SEMA3A:ENST00000265362.9:c.1453-4883C>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.00254762
- REMM: 0.003
- Frequency Data:
- gnomAD_G_AFR: 0.0048%
- gnomAD_G_AMR: 0.0198%
- gnomAD_G_EAS: 0.0196%
- gnomAD_G_NFE: 0.0324%
- gnomAD_G_SAS: 0.0627%
- Transcripts:
- SEMA3A:ENST00000265362.9:c.1453-8207A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.00216071
- REMM: 0.002
- Frequency Data:
- No frequency data
- Transcripts:
- SEMA3A:ENST00000265362.9:c.1453-8222G>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.00216071
- REMM: 0.002
- Frequency Data:
- No frequency data
- Transcripts:
- SEMA3A:ENST00000265362.9:c.454-6835G>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.00347183
- REMM: 0.003
- Frequency Data:
- gnomAD_G_AFR: 0.9361%
- gnomAD_G_AMR: 0.3536%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 0.4723%
- gnomAD_G_SAS: 1.4369%
- Transcripts:
- SEMA3A:ENST00000265362.9:c.548-6713T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.001
- REMM: 0.001
- Frequency Data:
- No frequency data
- Transcripts:
- SEMA3A:ENST00000265362.9:c.1718-3357C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.001
- REMM: 0.001
- Frequency Data:
- gnomAD_G_AFR: 0.0077%
- gnomAD_G_NFE: 0.0034%
- Transcripts:
- SEMA3A:ENST00000265362.9:c.1453-4978C>T:p.(=)
- Pathogenicity Data:
- Best Score: 7.5E-4
- REMM: 0.001
- Frequency Data:
- No frequency data
- Transcripts:
- SEMA3A:ENST00000265362.9:c.454-5564C>T:p.(=)
- Pathogenicity Data:
- Best Score: 7.5E-4
- REMM: 0.001
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 6.66667E-4
- REMM: 0.001
- Frequency Data:
- No frequency data
- Transcripts:
- SEMA3A:ENST00000265362.9:c.548-1412C>T:p.(=)
- Pathogenicity Data:
- Best Score: 5.0E-4
- REMM: 0.001
- Frequency Data:
- No frequency data
- Transcripts:
- SEMA3A:ENST00000265362.9:c.454-4271G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.00158095
- REMM: 0.002
- Frequency Data:
- gnomAD_G_AFR: 1.9802%
- gnomAD_G_AMR: 0.3826%
- gnomAD_G_NFE: 0.2899%
- gnomAD_G_SAS: 0.4898%
- Transcripts:
- SEMA3A:ENST00000265362.9:c.995+1340T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- UK10K: 0.8992%
- gnomAD_G_AFR: 0.2117%
- gnomAD_G_AMR: 0.3536%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 0.8660%
- gnomAD_G_SAS: 0.8088%
- Transcripts:
- SEMA3A:ENST00000265362.9:c.667+15446C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- UK10K: 0.8860%
- gnomAD_G_AFR: 0.2141%
- gnomAD_G_AMR: 0.3634%
- gnomAD_G_EAS: 0.0198%
- gnomAD_G_NFE: 0.8716%
- gnomAD_G_SAS: 0.7997%
- Transcripts:
- SEMA3A:ENST00000265362.9:c.454-4998T>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- No frequency data
- Transcripts:
- SEMA3A:ENST00000265362.9:c.454-8018G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- UK10K: 0.3967%
- gnomAD_G_AFR: 0.9500%
- gnomAD_G_AMR: 0.3474%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 0.4885%
- gnomAD_G_SAS: 1.5385%
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- No frequency data
- Transcripts:
- SEMA3A:ENST00000265362.9:c.113-13035A>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- UK10K: 0.3967%
- gnomAD_G_AFR: 0.7654%
- gnomAD_G_AMR: 0.4644%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 0.5072%
- gnomAD_G_SAS: 1.5975%
- Transcripts:
- SEMA3A:ENST00000265362.9:c.113-14232C>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- UK10K: 0.0397%
- gnomAD_G_AFR: 0.0096%
- gnomAD_G_AMR: 0.0196%
- gnomAD_G_NFE: 0.0250%
- gnomAD_G_SAS: 0.0621%
- Proximity score 0.501 in interactome to EIF4A2 and phenotypic similarity 0.643 to Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures associated with EIF4A2.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003186, Inverted nipples
- HP:0006625, Multifocal breast carcinoma - HP:0003186, Inverted nipples
- Known diseases:
- OMIM:618608 Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies - autosomal dominant
AUTOSOMAL_DOMINANT
Exomiser Score: 0.139 (p=2.3E-1)
Phenotype Score: 0.501
Variant Score: 0.681
- Pathogenicity Data:
- Best Score: 0.681362
- REMM: 0.681
- Frequency Data:
- No frequency data
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.009 (p=4.8E-1)
Phenotype Score: 0.251
Variant Score: 0.650
- Pathogenicity Data:
- Best Score: 0.681362
- REMM: 0.681
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.628181
- REMM: 0.628
- Frequency Data:
- gnomAD_G_AFR: 0.1125%
- gnomAD_G_NFE: 0.0443%
- Transcripts:
- CNOT2:ENST00000229195.8::
- Pathogenicity Data:
- Best Score: 0.350748
- REMM: 0.351
- Frequency Data:
- No frequency data
- Transcripts:
- CNOT2:ENST00000229195.8:c.*21_*23dup:p.(=)
- Pathogenicity Data:
- Best Score: 0.985514
- REMM: 0.986
- Frequency Data:
- gnomAD_E_AFR: 0.7472%
- gnomAD_E_AMR: 1.8895%
- gnomAD_E_EAS: 1.0449%
- gnomAD_E_NFE: 0.5776%
- gnomAD_E_SAS: 1.2971%
- gnomAD_G_AFR: 0.6688%
- gnomAD_G_AMR: 0.8525%
- gnomAD_G_EAS: 0.7149%
- gnomAD_G_NFE: 0.7400%
- gnomAD_G_SAS: 1.3939%
- Transcripts:
- CNOT2:ENST00000229195.8:c.-95-16826del:p.(=)
- Pathogenicity Data:
- Best Score: 0.197727
- REMM: 0.198
- Frequency Data:
- No frequency data
- Transcripts:
- CNOT2:ENST00000229195.8:c.-96+13103del:p.(=)
- Pathogenicity Data:
- Best Score: 0.0288702
- REMM: 0.029
- Frequency Data:
- gnomAD_G_AFR: 0.1559%
- gnomAD_G_AMR: 0.0583%
- gnomAD_G_EAS: 0.3900%
- gnomAD_G_NFE: 0.1131%
- gnomAD_G_SAS: 0.0638%
- Transcripts:
- CNOT2:ENST00000229195.8:c.49-15001C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.00195357
- REMM: 0.002
- Frequency Data:
- gnomAD_G_AFR: 0.0048%
- gnomAD_G_AMR: 0.0197%
- gnomAD_G_NFE: 0.0603%
- gnomAD_G_SAS: 0.0207%
- Proximity score 0.502 in interactome to FSHR and phenotypic similarity 0.676 to 46,XX gonadal dysgenesis associated with FSHR.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0010311, Aplasia/Hypoplasia of the breasts
- HP:0006625, Multifocal breast carcinoma - HP:0010311, Aplasia/Hypoplasia of the breasts
- Proximity score 0.502 in interactome to FSHR and phenotypic similarity 0.368 to mouse mutant of FSHR.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0000160, kyphosis
- HP:0006625, Multifocal breast carcinoma - MP:0000160, kyphosis
AUTOSOMAL_DOMINANT
Exomiser Score: 0.136 (p=2.4E-1)
Phenotype Score: 0.502
Variant Score: 0.677
- Transcripts:
- VIPR1:ENST00000325123.5::
- Pathogenicity Data:
- Best Score: 0.677574
- REMM: 0.678
- Frequency Data:
- gnomAD_G_NFE: 0.0015%
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.099 (p=2.6E-1)
Phenotype Score: 0.502
Variant Score: 0.638
- Transcripts:
- VIPR1:ENST00000325123.5::
- Pathogenicity Data:
- Best Score: 0.677574
- REMM: 0.678
- Frequency Data:
- gnomAD_G_NFE: 0.0015%
- Transcripts:
- VIPR1:ENST00000325123.5:c.809C>G:p.(Thr270Ser)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- gnomAD_E_AMR: 0.0048%
- gnomAD_E_NFE: 0.0060%
- gnomAD_E_SAS: 0.0024%
- gnomAD_G_NFE: 0.0073%
- Pathogenicity Data:
- Best Score: 0.163225
- REMM: 0.163
- Frequency Data:
- No frequency data
- Transcripts:
- VIPR1:ENST00000325123.5:c.292+2774T>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0792206
- REMM: 0.079
- Frequency Data:
- No frequency data
- Transcripts:
- VIPR1:ENST00000325123.5:c.78+1950_78+1951insG:p.(=)
- Pathogenicity Data:
- Best Score: 0.00551548
- REMM: 0.006
- Frequency Data:
- No frequency data
- Transcripts:
- VIPR1:ENST00000325123.5:c.78+1959G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0032
- REMM: 0.003
- Frequency Data:
- No frequency data
- Transcripts:
- VIPR1:ENST00000325123.5:c.919-17G>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.00166667
- REMM: 0.002
- Frequency Data:
- UK10K: 0.1190%
- gnomAD_E_AFR: 0.0149%
- gnomAD_E_AMR: 0.0604%
- gnomAD_E_NFE: 0.1321%
- gnomAD_E_SAS: 0.0313%
- gnomAD_G_AFR: 0.0096%
- gnomAD_G_AMR: 0.0654%
- gnomAD_G_NFE: 0.1485%
- gnomAD_G_SAS: 0.0208%
- Proximity score 0.502 in interactome to FSHR and phenotypic similarity 0.676 to 46,XX gonadal dysgenesis associated with FSHR.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0010311, Aplasia/Hypoplasia of the breasts
- HP:0006625, Multifocal breast carcinoma - HP:0010311, Aplasia/Hypoplasia of the breasts
- Proximity score 0.502 in interactome to FSHR and phenotypic similarity 0.368 to mouse mutant of FSHR.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0000160, kyphosis
- HP:0006625, Multifocal breast carcinoma - MP:0000160, kyphosis
- Known diseases:
- OMIM:143465 Attention deficit-hyperactivity disorder, susceptibility to (susceptibility)
- OMIM:606798 Blepharospasm, primary benign (susceptibility)
AUTOSOMAL_DOMINANT
Exomiser Score: 0.128 (p=2.4E-1)
Phenotype Score: 0.502
Variant Score: 0.670
- Transcripts:
- DRD5:ENST00000304374.4::
- Pathogenicity Data:
- Best Score: 0.673403
- REMM: 0.673
- Frequency Data:
- UK10K: 0.0132%
- gnomAD_G_AFR: 0.0072%
- gnomAD_G_AMR: 0.0065%
- gnomAD_G_EAS: 0.0387%
- gnomAD_G_NFE: 0.0074%
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.008 (p=5.0E-1)
Phenotype Score: 0.251
Variant Score: 0.633
- Transcripts:
- DRD5:ENST00000304374.4::
- Pathogenicity Data:
- Best Score: 0.673403
- REMM: 0.673
- Frequency Data:
- UK10K: 0.0132%
- gnomAD_G_AFR: 0.0072%
- gnomAD_G_AMR: 0.0065%
- gnomAD_G_EAS: 0.0387%
- gnomAD_G_NFE: 0.0074%
- Transcripts:
- DRD5:ENST00000304374.4:c.316T>C:p.(Tyr106His)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- gnomAD_E_AFR: 0.0090%
- gnomAD_E_AMR: 0.0134%
- gnomAD_E_NFE: 0.0492%
- gnomAD_E_SAS: 0.0035%
- gnomAD_G_AFR: 0.0072%
- gnomAD_G_NFE: 0.0529%
- Transcripts:
- DRD5:ENST00000304374.4::
- Pathogenicity Data:
- Best Score: 0.473973
- REMM: 0.474
- Frequency Data:
- No frequency data
- Transcripts:
- DRD5:ENST00000304374.4::
- Pathogenicity Data:
- Best Score: 0.28047
- REMM: 0.280
- Frequency Data:
- gnomAD_G_AFR: 0.1219%
- gnomAD_G_AMR: 0.3577%
- gnomAD_G_NFE: 0.8770%
- Transcripts:
- DRD5:ENST00000304374.4::
- Pathogenicity Data:
- Best Score: 0.0222694
- REMM: 0.022
- Frequency Data:
- UK10K: 1.3092%
- gnomAD_G_AFR: 0.2147%
- gnomAD_G_AMR: 0.7473%
- gnomAD_G_NFE: 1.4104%
- gnomAD_G_SAS: 0.4359%
- Phenotypic similarity 0.548 to Dyssegmental dysplasia, Silverman-Handmaker type associated with HSPG2.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0005257, Thoracic hypoplasia
- HP:0006625, Multifocal breast carcinoma - HP:0005257, Thoracic hypoplasia
- Phenotypic similarity 0.459 to mouse mutant involving HSPG2.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0004134, abnormal chest morphology
- HP:0006625, Multifocal breast carcinoma - MP:0004134, abnormal chest morphology
- Proximity score 0.508 in interactome to HS6ST1 and phenotypic similarity 0.620 to Kallmann syndrome associated with HS6ST1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003187, Breast hypoplasia
- HP:0006625, Multifocal breast carcinoma - HP:0003187, Breast hypoplasia
- Proximity score 0.508 in interactome to HS6ST1 and phenotypic similarity 0.318 to mouse mutant of HS6ST1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0002113, abnormal skeleton development
- HP:0006625, Multifocal breast carcinoma - MP:0002113, abnormal skeleton development
- Known diseases:
- OMIM:224410 Dyssegmental dysplasia, Silverman-Handmaker type - autosomal recessive
- OMIM:255800 Schwartz-Jampel syndrome, type 1 - autosomal recessive
- ORPHA:1606 1p36 deletion syndrome (CNV)
- ORPHA:1865 Dyssegmental dysplasia, Silverman-Handmaker type - autosomal recessive
- ORPHA:800 Schwartz-Jampel syndrome - autosomal recessive
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.126 (p=2.4E-1)
Phenotype Score: 0.548
Variant Score: 0.616
- Phenotype matches to diseases consistent with this MOI:
- Phenotypic similarity 0.548 to OMIM:224410 Dyssegmental dysplasia, Silverman-Handmaker type
- Phenotypic similarity 0.508 to ORPHA:1865 Dyssegmental dysplasia, Silverman-Handmaker type
- Phenotypic similarity 0.453 to ORPHA:800 Schwartz-Jampel syndrome
- Phenotypic similarity 0.451 to OMIM:255800 Schwartz-Jampel syndrome, type 1
- Transcripts:
- HSPG2:ENST00000374695.8:c.63+10393del:p.(=)
- Pathogenicity Data:
- Best Score: 0.619855
- REMM: 0.620
- Frequency Data:
- No frequency data
- Transcripts:
- HSPG2:ENST00000374695.8:c.4222-1805C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.701967
- REMM: 0.702
- Frequency Data:
- UK10K: 0.6083%
- gnomAD_G_AFR: 0.0891%
- gnomAD_G_AMR: 0.3272%
- gnomAD_G_NFE: 0.6646%
- gnomAD_G_SAS: 0.1657%
AUTOSOMAL_DOMINANT
Exomiser Score: 0.007 (p=5.1E-1)
Phenotype Score: 0.254
Variant Score: 0.620
- Transcripts:
- HSPG2:ENST00000374695.8:c.63+10393del:p.(=)
- Pathogenicity Data:
- Best Score: 0.619855
- REMM: 0.620
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.159107
- REMM: 0.159
- Frequency Data:
- No frequency data
- Transcripts:
- HSPG2:ENST00000374695.8:c.4741-946del:p.(=)
- Pathogenicity Data:
- Best Score: 0.159107
- REMM: 0.159
- Frequency Data:
- No frequency data
- Transcripts:
- HSPG2:ENST00000374695.8:c.63+4489C>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.15283
- REMM: 0.153
- Frequency Data:
- UK10K: 0.0397%
- gnomAD_G_AFR: 0.0048%
- gnomAD_G_AMR: 0.0065%
- gnomAD_G_NFE: 0.0617%
- Transcripts:
- HSPG2:ENST00000374695.8:c.3651C>T:p.(=)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- gnomAD_E_AFR: 0.0060%
- gnomAD_E_NFE: 0.0071%
- gnomAD_E_SAS: 0.0523%
- gnomAD_G_AFR: 0.0072%
- gnomAD_G_AMR: 0.0196%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 0.0088%
- gnomAD_G_SAS: 0.0829%
- Transcripts:
- HSPG2:ENST00000374695.8:c.4222-400C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0988075
- REMM: 0.099
- Frequency Data:
- No frequency data
- Transcripts:
- HSPG2:ENST00000374695.8:c.63+15601C>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.463119
- REMM: 0.463
- Frequency Data:
- UK10K: 0.7273%
- gnomAD_G_AFR: 0.1323%
- gnomAD_G_AMR: 0.3924%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 0.7852%
- gnomAD_G_SAS: 1.9876%
- Transcripts:
- HSPG2:ENST00000374695.8:c.10151-399G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- UK10K: 0.6348%
- gnomAD_G_AFR: 0.1012%
- gnomAD_G_AMR: 0.3928%
- gnomAD_G_NFE: 0.6926%
- gnomAD_G_SAS: 1.7435%
- Phenotypic similarity 0.504 to Pseudoxanthoma elasticum associated with ENPP1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0000765, Abnormal thorax morphology
- HP:0006625, Multifocal breast carcinoma - HP:0000765, Abnormal thorax morphology
- Phenotypic similarity 0.372 to mouse mutant involving ENPP1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0010099, abnormal thoracic cage shape
- HP:0006625, Multifocal breast carcinoma - MP:0010099, abnormal thoracic cage shape
- Phenotypic similarity 0.500 to zebrafish mutant involving ENPP1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - ZP:0006783, axial fin skeleton mineralized, abnormal
- HP:0006625, Multifocal breast carcinoma - ZP:0006783, axial fin skeleton mineralized, abnormal
- Proximity score 0.501 in interactome to INSR and phenotypic similarity 0.620 to Leprechaunism associated with INSR.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0004405, Prominent nipples
- HP:0006625, Multifocal breast carcinoma - HP:0004405, Prominent nipples
- Proximity score 0.501 in interactome to INSR and phenotypic similarity 0.273 to fish mutant of INSR.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - ZP:0103759, scale fin decreased size, abnormal
- HP:0006625, Multifocal breast carcinoma - ZP:0103759, scale fin decreased size, abnormal
- Known diseases:
- OMIM:125853 Diabetes mellitus, non-insulin-dependent, susceptibility to (susceptibility)
- OMIM:208000 Arterial calcification, generalized, of infancy, 1 - autosomal recessive
- OMIM:601665 Obesity, susceptibility to (susceptibility)
- OMIM:613312 Hypophosphatemic rickets, autosomal recessive, 2 - autosomal recessive
- OMIM:615522 Cole disease - autosomal dominant
- ORPHA:289176 Autosomal recessive hypophosphatemic rickets - autosomal recessive
- ORPHA:51608 Generalized arterial calcification of infancy - autosomal recessive
- ORPHA:758 Pseudoxanthoma elasticum - autosomal recessive
AUTOSOMAL_DOMINANT
Exomiser Score: 0.126 (p=2.4E-1)
Phenotype Score: 0.501
Variant Score: 0.669
- Transcripts:
- ENPP1:ENST00000647893.1:c.241-2732_241-2731del:p.(=)
- Pathogenicity Data:
- Best Score: 0.668915
- REMM: 0.669
- Frequency Data:
- No frequency data
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.114 (p=2.5E-1)
Phenotype Score: 0.504
Variant Score: 0.653
- Phenotype matches to diseases consistent with this MOI:
- Phenotypic similarity 0.504 to ORPHA:758 Pseudoxanthoma elasticum
- Phenotypic similarity 0.471 to ORPHA:51608 Generalized arterial calcification of infancy
- Transcripts:
- ENPP1:ENST00000647893.1:c.241-2732_241-2731del:p.(=)
- Pathogenicity Data:
- Best Score: 0.668915
- REMM: 0.669
- Frequency Data:
- No frequency data
- Transcripts:
- ENPP1:ENST00000647893.1:c.241-2732del:p.(=)
- Pathogenicity Data:
- Best Score: 0.636734
- REMM: 0.637
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.35499
- REMM: 0.355
- Frequency Data:
- No frequency data
- Transcripts:
- ENPP1:ENST00000647893.1::
- Pathogenicity Data:
- Best Score: 0.338233
- REMM: 0.338
- Frequency Data:
- No frequency data
- Transcripts:
- ENPP1:ENST00000647893.1::
- Pathogenicity Data:
- Best Score: 0.323759
- REMM: 0.324
- Frequency Data:
- No frequency data
- Transcripts:
- ENPP1:ENST00000647893.1::
- Pathogenicity Data:
- Best Score: 0.32077
- REMM: 0.321
- Frequency Data:
- No frequency data
- Transcripts:
- ENPP1:ENST00000647893.1::
- Pathogenicity Data:
- Best Score: 0.290438
- REMM: 0.290
- Frequency Data:
- No frequency data
- Transcripts:
- ENPP1:ENST00000647893.1::
- Pathogenicity Data:
- Best Score: 0.2919
- REMM: 0.292
- Frequency Data:
- gnomAD_G_AFR: 0.0151%
- gnomAD_G_AMR: 0.0199%
- gnomAD_G_EAS: 0.0541%
- gnomAD_G_NFE: 0.0114%
- gnomAD_G_SAS: 0.0394%
- Transcripts:
- ENPP1:ENST00000647893.1::
- Pathogenicity Data:
- Best Score: 0.289438
- REMM: 0.289
- Frequency Data:
- No frequency data
- Transcripts:
- ENPP1:ENST00000647893.1:c.*3465_*3468del:p.(=)
- Pathogenicity Data:
- Best Score: 0.22929
- REMM: 0.229
- Frequency Data:
- No frequency data
- Transcripts:
- ENPP1:ENST00000647893.1::
- Pathogenicity Data:
- Best Score: 0.153377
- REMM: 0.153
- Frequency Data:
- No frequency data
- Transcripts:
- ENPP1:ENST00000647893.1::
- Pathogenicity Data:
- Best Score: 0.122414
- REMM: 0.122
- Frequency Data:
- No frequency data
- Transcripts:
- ENPP1:ENST00000647893.1::
- Pathogenicity Data:
- Best Score: 0.13179
- REMM: 0.132
- Frequency Data:
- gnomAD_G_AFR: 0.3150%
- gnomAD_G_AMR: 0.5702%
- gnomAD_G_EAS: 0.1550%
- gnomAD_G_NFE: 0.1363%
- gnomAD_G_SAS: 0.0444%
- Transcripts:
- ENPP1:ENST00000647893.1::
- Pathogenicity Data:
- Best Score: 0.113938
- REMM: 0.114
- Frequency Data:
- No frequency data
- Transcripts:
- ENPP1:ENST00000647893.1::
- Pathogenicity Data:
- Best Score: 0.0998313
- REMM: 0.100
- Frequency Data:
- No frequency data
- Transcripts:
- ENPP1:ENST00000647893.1::
- Pathogenicity Data:
- Best Score: 0.0985397
- REMM: 0.099
- Frequency Data:
- No frequency data
- Transcripts:
- ENPP1:ENST00000647893.1::
- Pathogenicity Data:
- Best Score: 0.0975825
- REMM: 0.098
- Frequency Data:
- No frequency data
- Transcripts:
- ENPP1:ENST00000647893.1::
- Pathogenicity Data:
- Best Score: 0.0722278
- REMM: 0.072
- Frequency Data:
- gnomAD_G_AFR: 0.0059%
- gnomAD_G_NFE: 0.0064%
- Transcripts:
- ENPP1:ENST00000647893.1::
- Pathogenicity Data:
- Best Score: 0.0578159
- REMM: 0.058
- Frequency Data:
- No frequency data
- Transcripts:
- ENPP1:ENST00000647893.1:c.*3468del:p.(=)
- Pathogenicity Data:
- Best Score: 0.0565536
- REMM: 0.057
- Frequency Data:
- No frequency data
- Transcripts:
- ENPP1:ENST00000647893.1::
- Pathogenicity Data:
- Best Score: 0.0591806
- REMM: 0.059
- Frequency Data:
- gnomAD_G_AFR: 0.9665%
- gnomAD_G_AMR: 0.0720%
- gnomAD_G_EAS: 0.0896%
- gnomAD_G_NFE: 0.0645%
- gnomAD_G_SAS: 0.1806%
- Transcripts:
- ENPP1:ENST00000647893.1::
- Pathogenicity Data:
- Best Score: 0.0575139
- REMM: 0.058
- Frequency Data:
- gnomAD_G_AFR: 1.7711%
- gnomAD_G_AMR: 0.2773%
- gnomAD_G_EAS: 0.0888%
- gnomAD_G_NFE: 0.0368%
- gnomAD_G_SAS: 1.1464%
- Transcripts:
- ENPP1:ENST00000647893.1::
- Pathogenicity Data:
- Best Score: 0.0114476
- REMM: 0.011
- Frequency Data:
- gnomAD_G_AFR: 0.3103%
- gnomAD_G_AMR: 0.5489%
- gnomAD_G_EAS: 0.1552%
- gnomAD_G_NFE: 0.1377%
- gnomAD_G_SAS: 0.0444%
- Transcripts:
- ENPP1:ENST00000647893.1::
- Pathogenicity Data:
- Best Score: 0.0523028
- REMM: 0.052
- Frequency Data:
- gnomAD_G_AFR: 1.9640%
- gnomAD_G_AMR: 1.0496%
- gnomAD_G_EAS: 0.9757%
- gnomAD_G_NFE: 0.5594%
- gnomAD_G_SAS: 1.0075%
- Transcripts:
- ENPP1:ENST00000647893.1::
- Pathogenicity Data:
- Best Score: 0.00579405
- REMM: 0.006
- Frequency Data:
- gnomAD_G_AFR: 1.9709%
- gnomAD_G_AMR: 1.2573%
- gnomAD_G_EAS: 1.1075%
- gnomAD_G_NFE: 0.6789%
- gnomAD_G_SAS: 1.9826%
- Transcripts:
- ENPP1:ENST00000647893.1:c.313+8_313+9insGTGTGT:p.(=)
- Pathogenicity Data:
- Best Score: 1.0E-4
- REMM: 0.000
- Frequency Data:
- gnomAD_E_AFR: 0.1529%
- gnomAD_E_AMR: 0.5465%
- gnomAD_E_EAS: 0.0869%
- gnomAD_E_NFE: 0.5954%
- gnomAD_E_SAS: 0.7807%
- gnomAD_G_AFR: 0.4004%
- gnomAD_G_AMR: 0.8063%
- gnomAD_G_EAS: 0.1655%
- gnomAD_G_NFE: 1.6694%
- gnomAD_G_SAS: 1.5330%
- Proximity score 0.502 in interactome to CACNA1C and phenotypic similarity 0.643 to Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures associated with CACNA1C.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003186, Inverted nipples
- HP:0006625, Multifocal breast carcinoma - HP:0003186, Inverted nipples
- Proximity score 0.502 in interactome to CACNA1C and phenotypic similarity 0.349 to mouse mutant of CACNA1C.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0002759, abnormal caudal vertebrae morphology
- HP:0006625, Multifocal breast carcinoma - MP:0002759, abnormal caudal vertebrae morphology
- Proximity score 0.502 in interactome to CACNA1C and phenotypic similarity 0.255 to fish mutant of CACNA1C.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - ZP:0001052, mandibular arch skeleton morphology, abnormal
- HP:0006625, Multifocal breast carcinoma - ZP:0001052, mandibular arch skeleton morphology, abnormal
- Known diseases:
- OMIM:115000 Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome - autosomal dominant
- OMIM:604772 Ventricular tachycardia, catecholaminergic polymorphic, 1 - autosomal dominant
- ORPHA:3286 Catecholaminergic polymorphic ventricular tachycardia - autosomal dominant
AUTOSOMAL_DOMINANT
Exomiser Score: 0.124 (p=2.4E-1)
Phenotype Score: 0.502
Variant Score: 0.666
- Transcripts:
- RYR2:ENST00000366574.7:c.49-80202A>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.666585
- REMM: 0.667
- Frequency Data:
- gnomAD_G_AMR: 0.0065%
- gnomAD_G_NFE: 0.0015%
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.010 (p=4.8E-1)
Phenotype Score: 0.251
Variant Score: 0.658
- Transcripts:
- RYR2:ENST00000366574.7:c.49-80202A>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.666585
- REMM: 0.667
- Frequency Data:
- gnomAD_G_AMR: 0.0065%
- gnomAD_G_NFE: 0.0015%
- Transcripts:
- RYR2:ENST00000366574.7:c.4437-611_4437-596del:p.(=)
- Pathogenicity Data:
- Best Score: 0.650585
- REMM: 0.651
- Frequency Data:
- No frequency data
- Transcripts:
- RYR2:ENST00000366574.7:c.3215-4281T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.670565
- REMM: 0.671
- Frequency Data:
- UK10K: 0.2380%
- gnomAD_G_AFR: 0.0409%
- gnomAD_G_AMR: 0.2810%
- gnomAD_G_NFE: 0.3337%
- gnomAD_G_SAS: 0.3520%
- Transcripts:
- RYR2:ENST00000366574.7:c.4160+146_4160+190del:p.(=)
- Pathogenicity Data:
- Best Score: 0.59558
- REMM: 0.596
- Frequency Data:
- No frequency data
- Transcripts:
- RYR2:ENST00000366574.7:c.169-11982T>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.617052
- REMM: 0.617
- Frequency Data:
- UK10K: 0.3703%
- gnomAD_G_AFR: 0.0577%
- gnomAD_G_AMR: 0.5762%
- gnomAD_G_NFE: 0.3764%
- gnomAD_G_SAS: 0.1453%
- Transcripts:
- RYR2:ENST00000366574.7:c.49-49202A>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.539459
- REMM: 0.539
- Frequency Data:
- UK10K: 0.2777%
- gnomAD_G_AFR: 0.0313%
- gnomAD_G_AMR: 0.2548%
- gnomAD_G_NFE: 0.2425%
- gnomAD_G_SAS: 0.1035%
- Pathogenicity Data:
- Best Score: 0.51253
- REMM: 0.513
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.509682
- REMM: 0.510
- Frequency Data:
- gnomAD_G_AFR: 0.0048%
- gnomAD_G_AMR: 0.0131%
- gnomAD_G_NFE: 0.0470%
- Transcripts:
- RYR2:ENST00000366574.7:c.3215-1551T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.491312
- REMM: 0.491
- Frequency Data:
- No frequency data
- Transcripts:
- RYR2:ENST00000366574.7:c.48+86782A>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.68776
- REMM: 0.688
- Frequency Data:
- UK10K: 0.9654%
- gnomAD_G_AFR: 0.1757%
- gnomAD_G_AMR: 0.4768%
- gnomAD_G_NFE: 1.1510%
- gnomAD_G_SAS: 0.0829%
- Transcripts:
- RYR2:ENST00000366574.7:c.48+106498T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.610376
- REMM: 0.610
- Frequency Data:
- UK10K: 0.8463%
- gnomAD_G_AFR: 0.1419%
- gnomAD_G_AMR: 0.4708%
- gnomAD_G_NFE: 0.9453%
- gnomAD_G_SAS: 0.1036%
- Pathogenicity Data:
- Best Score: 0.454303
- REMM: 0.454
- Frequency Data:
- gnomAD_G_NFE: 0.0183%
- gnomAD_G_SAS: 0.0706%
- Transcripts:
- RYR2:ENST00000366574.7:c.3215-7119G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.551466
- REMM: 0.551
- Frequency Data:
- UK10K: 0.3967%
- gnomAD_G_AFR: 0.0650%
- gnomAD_G_AMR: 0.3925%
- gnomAD_G_EAS: 0.0194%
- gnomAD_G_NFE: 0.5073%
- gnomAD_G_SAS: 0.8710%
- Pathogenicity Data:
- Best Score: 0.443465
- REMM: 0.443
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.420171
- REMM: 0.420
- Frequency Data:
- No frequency data
- Transcripts:
- RYR2:ENST00000366574.7:c.1005+669C>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.411979
- REMM: 0.412
- Frequency Data:
- gnomAD_G_NFE: 0.0015%
- Pathogenicity Data:
- Best Score: 0.407843
- REMM: 0.408
- Frequency Data:
- No frequency data
- Transcripts:
- RYR2:ENST00000366574.7::
- Pathogenicity Data:
- Best Score: 0.681163
- REMM: 0.681
- Frequency Data:
- UK10K: 0.7009%
- gnomAD_G_AFR: 0.1709%
- gnomAD_G_AMR: 1.3800%
- gnomAD_G_NFE: 0.9232%
- gnomAD_G_SAS: 0.0622%
- Pathogenicity Data:
- Best Score: 0.393873
- REMM: 0.394
- Frequency Data:
- No frequency data
- Transcripts:
- RYR2:ENST00000366574.7:c.48+63266del:p.(=)
- Pathogenicity Data:
- Best Score: 0.364422
- REMM: 0.364
- Frequency Data:
- No frequency data
- Transcripts:
- RYR2:ENST00000366574.7:c.48+22183_48+22190del:p.(=)
- Pathogenicity Data:
- Best Score: 0.315523
- REMM: 0.316
- Frequency Data:
- No frequency data
- Transcripts:
- RYR2:ENST00000366574.7:c.49-113201del:p.(=)
- Pathogenicity Data:
- Best Score: 0.306427
- REMM: 0.306
- Frequency Data:
- No frequency data
- Transcripts:
- RYR2:ENST00000366574.7:c.49-92080_49-92057del:p.(=)
- Pathogenicity Data:
- Best Score: 0.348078
- REMM: 0.348
- Frequency Data:
- gnomAD_G_AFR: 0.0620%
- gnomAD_G_AMR: 0.7647%
- gnomAD_G_EAS: 0.0233%
- gnomAD_G_NFE: 0.1475%
- gnomAD_G_SAS: 0.0582%
- Pathogenicity Data:
- Best Score: 0.291538
- REMM: 0.292
- Frequency Data:
- gnomAD_G_AFR: 0.1720%
- gnomAD_G_AMR: 0.0765%
- gnomAD_G_EAS: 0.1414%
- gnomAD_G_NFE: 0.0246%
- Transcripts:
- RYR2:ENST00000366574.7:c.773+8928C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.394005
- REMM: 0.394
- Frequency Data:
- UK10K: 1.1240%
- gnomAD_G_AFR: 0.2607%
- gnomAD_G_AMR: 1.0552%
- gnomAD_G_NFE: 1.0661%
- gnomAD_G_SAS: 0.1666%
- Transcripts:
- RYR2:ENST00000366574.7:c.4160+212C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.282614
- REMM: 0.283
- Frequency Data:
- No frequency data
- Transcripts:
- RYR2:ENST00000366574.7:c.48+81082_48+81083del:p.(=)
- Pathogenicity Data:
- Best Score: 0.252833
- REMM: 0.253
- Frequency Data:
- No frequency data
- Transcripts:
- RYR2:ENST00000366574.7::
- Pathogenicity Data:
- Best Score: 0.251958
- REMM: 0.252
- Frequency Data:
- No frequency data
- Transcripts:
- RYR2:ENST00000366574.7::
- Pathogenicity Data:
- Best Score: 0.249124
- REMM: 0.249
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.241925
- REMM: 0.242
- Frequency Data:
- No frequency data
- Transcripts:
- RYR2:ENST00000366574.7::
- Pathogenicity Data:
- Best Score: 0.231079
- REMM: 0.231
- Frequency Data:
- No frequency data
- Transcripts:
- RYR2:ENST00000366574.7:c.6440+294C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.223267
- REMM: 0.223
- Frequency Data:
- No frequency data
- Transcripts:
- RYR2:ENST00000366574.7:c.48+3301_48+3305del:p.(=)
- Pathogenicity Data:
- Best Score: 0.210394
- REMM: 0.210
- Frequency Data:
- No frequency data
- Transcripts:
- RYR2:ENST00000366574.7:c.48+32899T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.205623
- REMM: 0.206
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.201234
- REMM: 0.201
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.199573
- REMM: 0.200
- Frequency Data:
- gnomAD_G_NFE: 0.0019%
- Pathogenicity Data:
- Best Score: 0.184524
- REMM: 0.185
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.184242
- REMM: 0.184
- Frequency Data:
- No frequency data
- Transcripts:
- RYR2:ENST00000366574.7:c.48+33069_48+33079del:p.(=)
- Pathogenicity Data:
- Best Score: 0.180975
- REMM: 0.181
- Frequency Data:
- No frequency data
- Transcripts:
- RYR2:ENST00000366574.7:c.10324-2200A>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.179004
- REMM: 0.179
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.177212
- REMM: 0.177
- Frequency Data:
- No frequency data
- Transcripts:
- RYR2:ENST00000366574.7:c.*716dup:p.(=)
- Pathogenicity Data:
- Best Score: 0.742364
- REMM: 0.742
- Frequency Data:
- gnomAD_G_AFR: 1.5427%
- gnomAD_G_AMR: 0.5866%
- gnomAD_G_EAS: 1.8991%
- gnomAD_G_NFE: 0.3472%
- gnomAD_G_SAS: 0.8579%
- Pathogenicity Data:
- Best Score: 0.164231
- REMM: 0.164
- Frequency Data:
- No frequency data
- Transcripts:
- RYR2:ENST00000366574.7:c.168+7630del:p.(=)
- Pathogenicity Data:
- Best Score: 0.160062
- REMM: 0.160
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.155332
- REMM: 0.155
- Frequency Data:
- No frequency data
- Transcripts:
- RYR2:ENST00000366574.7::
- Pathogenicity Data:
- Best Score: 0.146654
- REMM: 0.147
- Frequency Data:
- No frequency data
- Transcripts:
- RYR2:ENST00000366574.7::
- Pathogenicity Data:
- Best Score: 0.145215
- REMM: 0.145
- Frequency Data:
- No frequency data
- Transcripts:
- RYR2:ENST00000366574.7:c.14591-444del:p.(=)
- Pathogenicity Data:
- Best Score: 0.128771
- REMM: 0.129
- Frequency Data:
- No frequency data
- Transcripts:
- RYR2:ENST00000366574.7:c.773+7351_773+7361del:p.(=)
- Pathogenicity Data:
- Best Score: 0.120139
- REMM: 0.120
- Frequency Data:
- No frequency data
- Transcripts:
- RYR2:ENST00000366574.7:c.773+7351_773+7362del:p.(=)
- Pathogenicity Data:
- Best Score: 0.120139
- REMM: 0.120
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.119006
- REMM: 0.119
- Frequency Data:
- No frequency data
- Transcripts:
- RYR2:ENST00000366574.7::
- Pathogenicity Data:
- Best Score: 0.112673
- REMM: 0.113
- Frequency Data:
- No frequency data
- Transcripts:
- RYR2:ENST00000366574.7:c.49-8251_49-8250del:p.(=)
- Pathogenicity Data:
- Best Score: 0.105316
- REMM: 0.105
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.098844
- REMM: 0.099
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.098844
- REMM: 0.099
- Frequency Data:
- No frequency data
- Transcripts:
- RYR2:ENST00000366574.7:c.48+33070G>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0945246
- REMM: 0.095
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.1667
- REMM: 0.167
- Frequency Data:
- gnomAD_G_AFR: 1.4732%
- gnomAD_G_AMR: 0.2295%
- gnomAD_G_EAS: 0.0631%
- gnomAD_G_NFE: 0.0907%
- gnomAD_G_SAS: 0.1141%
- Transcripts:
- RYR2:ENST00000366574.7:c.48+18707_48+18708insT:p.(=)
- Pathogenicity Data:
- Best Score: 0.0888008
- REMM: 0.089
- Frequency Data:
- No frequency data
- Transcripts:
- RYR2:ENST00000366574.7::
- Pathogenicity Data:
- Best Score: 0.087956
- REMM: 0.088
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.0861139
- REMM: 0.086
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.0861139
- REMM: 0.086
- Frequency Data:
- No frequency data
- Transcripts:
- RYR2:ENST00000366574.7:c.49-22230_49-22229insC:p.(=)
- Pathogenicity Data:
- Best Score: 0.0835972
- REMM: 0.084
- Frequency Data:
- No frequency data
- Transcripts:
- RYR2:ENST00000366574.7:c.48+33444C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0835123
- REMM: 0.084
- Frequency Data:
- No frequency data
- Transcripts:
- RYR2:ENST00000366574.7::
- Pathogenicity Data:
- Best Score: 0.0781278
- REMM: 0.078
- Frequency Data:
- No frequency data
- Transcripts:
- RYR2:ENST00000366574.7::
- Pathogenicity Data:
- Best Score: 0.0745139
- REMM: 0.075
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.0665111
- REMM: 0.067
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.0665111
- REMM: 0.067
- Frequency Data:
- gnomAD_G_AMR: 0.0219%
- gnomAD_G_EAS: 0.4087%
- gnomAD_G_NFE: 0.0427%
- Pathogenicity Data:
- Best Score: 0.0555817
- REMM: 0.056
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.0555817
- REMM: 0.056
- Frequency Data:
- No frequency data
- Transcripts:
- RYR2:ENST00000366574.7:c.48+3301del:p.(=)
- Pathogenicity Data:
- Best Score: 0.0499353
- REMM: 0.050
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.0399294
- REMM: 0.040
- Frequency Data:
- No frequency data
- Transcripts:
- RYR2:ENST00000366574.7:c.48+33046A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0350782
- REMM: 0.035
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.0270548
- REMM: 0.027
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.0269373
- REMM: 0.027
- Frequency Data:
- No frequency data
- Transcripts:
- RYR2:ENST00000366574.7:c.6166+776_6166+777insT:p.(=)
- Pathogenicity Data:
- Best Score: 0.0212722
- REMM: 0.021
- Frequency Data:
- No frequency data
- Transcripts:
- RYR2:ENST00000366574.7::
- Pathogenicity Data:
- Best Score: 0.0422444
- REMM: 0.042
- Frequency Data:
- gnomAD_G_AFR: 0.7903%
- gnomAD_G_AMR: 0.9299%
- gnomAD_G_EAS: 0.1801%
- gnomAD_G_NFE: 1.6200%
- gnomAD_G_SAS: 1.2174%
- Pathogenicity Data:
- Best Score: 0.016404
- REMM: 0.016
- Frequency Data:
- No frequency data
- Transcripts:
- RYR2:ENST00000366574.7:c.6440+320C>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0137048
- REMM: 0.014
- Frequency Data:
- No frequency data
- Transcripts:
- RYR2:ENST00000366574.7:c.48+34163C>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0136202
- REMM: 0.014
- Frequency Data:
- No frequency data
- Transcripts:
- RYR2:ENST00000366574.7:c.48+34591T>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0109813
- REMM: 0.011
- Frequency Data:
- No frequency data
- Transcripts:
- RYR2:ENST00000366574.7:c.48+35599A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0103377
- REMM: 0.010
- Frequency Data:
- No frequency data
- Transcripts:
- RYR2:ENST00000366574.7:c.48+33931C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0103008
- REMM: 0.010
- Frequency Data:
- No frequency data
- Transcripts:
- RYR2:ENST00000366574.7:c.48+38034C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.009975
- REMM: 0.010
- Frequency Data:
- No frequency data
- Transcripts:
- RYR2:ENST00000366574.7:c.48+38039G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.008175
- REMM: 0.008
- Frequency Data:
- No frequency data
- Transcripts:
- RYR2:ENST00000366574.7:c.48+34888A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.00790833
- REMM: 0.008
- Frequency Data:
- No frequency data
- Transcripts:
- RYR2:ENST00000366574.7:c.48+34868T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.00735278
- REMM: 0.007
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.00722341
- REMM: 0.007
- Frequency Data:
- gnomAD_G_AFR: 0.0129%
- gnomAD_G_AMR: 0.0452%
- gnomAD_G_NFE: 0.0073%
- Transcripts:
- RYR2:ENST00000366574.7:c.48+51765G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.00657063
- REMM: 0.007
- Frequency Data:
- UK10K: 0.1058%
- gnomAD_G_AFR: 0.0313%
- gnomAD_G_AMR: 0.0392%
- gnomAD_G_NFE: 0.1676%
- gnomAD_G_SAS: 0.0207%
- Transcripts:
- RYR2:ENST00000366574.7:c.48+36237T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.00628611
- REMM: 0.006
- Frequency Data:
- No frequency data
- Transcripts:
- RYR2:ENST00000366574.7:c.48+37404C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.00578611
- REMM: 0.006
- Frequency Data:
- No frequency data
- Transcripts:
- RYR2:ENST00000366574.7:c.48+38398C>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0056373
- REMM: 0.006
- Frequency Data:
- No frequency data
- Transcripts:
- RYR2:ENST00000366574.7:c.274-5348A>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.00515794
- REMM: 0.005
- Frequency Data:
- gnomAD_G_AFR: 0.0752%
- gnomAD_G_AMR: 0.1167%
- gnomAD_G_NFE: 0.4423%
- gnomAD_G_SAS: 0.0267%
- Transcripts:
- RYR2:ENST00000366574.7:c.169-11433A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.00820556
- REMM: 0.008
- Frequency Data:
- UK10K: 1.2695%
- gnomAD_G_AFR: 0.2118%
- gnomAD_G_AMR: 0.9812%
- gnomAD_G_EAS: 0.0579%
- gnomAD_G_NFE: 1.5631%
- gnomAD_G_SAS: 0.2900%
- Pathogenicity Data:
- Best Score: 0.00337738
- REMM: 0.003
- Frequency Data:
- gnomAD_G_AFR: 0.0350%
- gnomAD_G_AMR: 0.1831%
- gnomAD_G_NFE: 0.1890%
- Transcripts:
- RYR2:ENST00000366574.7:c.48+64768C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.00273175
- REMM: 0.003
- Frequency Data:
- gnomAD_G_AFR: 0.2500%
- gnomAD_G_AMR: 0.6275%
- gnomAD_G_EAS: 0.0196%
- gnomAD_G_NFE: 1.0726%
- gnomAD_G_SAS: 0.7216%
- Pathogenicity Data:
- Best Score: 0.00150119
- REMM: 0.002
- Frequency Data:
- No frequency data
- Transcripts:
- RYR2:ENST00000366574.7:c.4160+205T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.00142857
- REMM: 0.001
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.00111111
- REMM: 0.001
- Frequency Data:
- No frequency data
- Transcripts:
- RYR2:ENST00000366574.7:c.2718+2317A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.001
- REMM: 0.001
- Frequency Data:
- gnomAD_G_NFE: 0.0015%
- Transcripts:
- RYR2:ENST00000366574.7:c.3214+6513A>G:p.(=)
- Pathogenicity Data:
- Best Score: 8.88889E-4
- REMM: 0.001
- Frequency Data:
- UK10K: 0.2777%
- gnomAD_G_AFR: 0.1082%
- gnomAD_G_AMR: 0.5232%
- gnomAD_G_EAS: 0.0194%
- gnomAD_G_NFE: 0.4822%
- gnomAD_G_SAS: 0.0414%
- Transcripts:
- RYR2:ENST00000366574.7:c.773+6936G>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.001
- REMM: 0.001
- Frequency Data:
- UK10K: 1.1373%
- gnomAD_G_AFR: 0.2744%
- gnomAD_G_AMR: 1.1642%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 1.4554%
- gnomAD_G_SAS: 0.1456%
- Transcripts:
- RYR2:ENST00000366574.7:c.14434-4070del:p.(=)
- Pathogenicity Data:
- Best Score: 5.33333E-4
- REMM: 0.001
- Frequency Data:
- No frequency data
- Transcripts:
- RYR2:ENST00000366574.7:c.2822+1654C>T:p.(=)
- Pathogenicity Data:
- Best Score: 3.33333E-4
- REMM: 0.000
- Frequency Data:
- gnomAD_G_NFE: 0.0015%
- gnomAD_G_SAS: 0.0415%
- Transcripts:
- RYR2:ENST00000366574.7:c.577-3863del:p.(=)
- Pathogenicity Data:
- Best Score: 1.25E-4
- REMM: 0.000
- Frequency Data:
- No frequency data
- Transcripts:
- RYR2:ENST00000366574.7:c.2614-309A>G:p.(=)
- Pathogenicity Data:
- Best Score: 1.95695E-6
- REMM: 0.000
- Frequency Data:
- UK10K: 0.3835%
- gnomAD_G_AFR: 0.0699%
- gnomAD_G_AMR: 0.3469%
- gnomAD_G_NFE: 0.4897%
- gnomAD_G_SAS: 0.8302%
- Transcripts:
- RYR2:ENST00000366574.7:c.48+48860G>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- No frequency data
- Transcripts:
- RYR2:ENST00000366574.7:c.48+48861G>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- No frequency data
- Transcripts:
- RYR2:ENST00000366574.7:c.49-18443C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- UK10K: 0.1058%
- gnomAD_G_AFR: 0.0410%
- gnomAD_G_AMR: 0.5177%
- gnomAD_G_EAS: 0.0194%
- gnomAD_G_NFE: 0.1632%
- gnomAD_G_SAS: 0.0208%
- Transcripts:
- RYR2:ENST00000366574.7:c.169-28329C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- UK10K: 0.1190%
- gnomAD_G_AMR: 0.0262%
- gnomAD_G_NFE: 0.0323%
- Transcripts:
- RYR2:ENST00000366574.7:c.169-18514C>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- No frequency data
- Transcripts:
- RYR2:ENST00000366574.7:c.274-11340G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- gnomAD_G_AFR: 0.0386%
- gnomAD_G_AMR: 0.0262%
- gnomAD_G_NFE: 0.0029%
- Transcripts:
- RYR2:ENST00000366574.7:c.1006-6669C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- UK10K: 1.1769%
- gnomAD_G_AFR: 0.3081%
- gnomAD_G_AMR: 1.0597%
- gnomAD_G_EAS: 0.0386%
- gnomAD_G_NFE: 1.6203%
- gnomAD_G_SAS: 0.1247%
- Transcripts:
- RYR2:ENST00000366574.7:c.1708+4276A>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- No frequency data
- Phenotypic similarity 0.582 to DEEAH syndrome associated with MADD.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0006610, Wide intermamillary distance
- HP:0006625, Multifocal breast carcinoma - HP:0006610, Wide intermamillary distance
- Known diseases:
- OMIM:619004 DEEAH syndrome - autosomal recessive
- OMIM:619005 Neurodevelopmental disorder with dysmorphic facies, impaired speech and hypotonia - autosomal recessive
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.124 (p=2.4E-1)
Phenotype Score: 0.582
Variant Score: 0.575
- Phenotype matches to diseases consistent with this MOI:
- Phenotypic similarity 0.582 to OMIM:619004 DEEAH syndrome
- Pathogenicity Data:
- Best Score: 0.603464
- REMM: 0.603
- Frequency Data:
- No frequency data
- Transcripts:
- MADD:ENST00000706887.1:c.4377+2056G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.65178
- REMM: 0.652
- Frequency Data:
- UK10K: 0.0132%
- gnomAD_G_AFR: 0.0072%
- gnomAD_G_AMR: 0.0719%
- gnomAD_G_NFE: 0.0147%
- gnomAD_G_SAS: 0.7881%
AUTOSOMAL_DOMINANT
Exomiser Score: 0.000 (p=8.1E-1)
Phenotype Score: 0.000
Variant Score: 0.603
- Pathogenicity Data:
- Best Score: 0.603464
- REMM: 0.603
- Frequency Data:
- No frequency data
- Transcripts:
- MADD:ENST00000706887.1:c.4377+2618del:p.(=)
- Pathogenicity Data:
- Best Score: 0.418133
- REMM: 0.418
- Frequency Data:
- UK10K: 0.0132%
- gnomAD_G_AMR: 0.0591%
- gnomAD_G_NFE: 0.0147%
- gnomAD_G_SAS: 0.7903%
- Transcripts:
- MADD:ENST00000706887.1:c.3760-5351del:p.(=)
- Pathogenicity Data:
- Best Score: 0.09725
- REMM: 0.097
- Frequency Data:
- No frequency data
- Transcripts:
- MADD:ENST00000706887.1:c.4887G>T:p.(=)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- gnomAD_E_AFR: 0.0090%
- gnomAD_E_AMR: 0.0626%
- gnomAD_E_NFE: 0.0192%
- gnomAD_E_SAS: 0.6967%
- gnomAD_G_AMR: 0.0588%
- gnomAD_G_NFE: 0.0176%
- gnomAD_G_SAS: 0.7884%
- Pathogenicity Data:
- Best Score: 0.139017
- REMM: 0.139
- Frequency Data:
- gnomAD_G_AFR: 1.4890%
- gnomAD_G_AMR: 0.5090%
- gnomAD_G_EAS: 0.5938%
- gnomAD_G_NFE: 0.9117%
- Transcripts:
- MADD:ENST00000706887.1:c.4270-589C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.00576587
- REMM: 0.006
- Frequency Data:
- UK10K: 0.1322%
- gnomAD_G_AFR: 0.0458%
- gnomAD_G_AMR: 0.2813%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 0.2427%
- gnomAD_G_SAS: 1.2448%
- Transcripts:
- MADD:ENST00000706887.1:c.2654-1185del:p.(=)
- Pathogenicity Data:
- Best Score: 0.00194444
- REMM: 0.002
- Frequency Data:
- No frequency data
- Proximity score 0.503 in interactome to TGFBR2 and phenotypic similarity 0.998 to Lynch syndrome associated with TGFBR2.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003002, Breast carcinoma
- HP:0006625, Multifocal breast carcinoma - HP:0003002, Breast carcinoma
- Proximity score 0.503 in interactome to TGFBR2 and phenotypic similarity 0.368 to mouse mutant of TGFBR2.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0000160, kyphosis
- HP:0006625, Multifocal breast carcinoma - MP:0000160, kyphosis
- Known diseases:
- OMIM:615342 Pulmonary hypertension, primary, 2 - autosomal dominant
AUTOSOMAL_DOMINANT
Exomiser Score: 0.122 (p=2.5E-1)
Phenotype Score: 0.503
Variant Score: 0.662
- Transcripts:
- SMAD9:ENST00000379826.5:c.-187+20115G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.661933
- REMM: 0.662
- Frequency Data:
- No frequency data
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.009 (p=4.9E-1)
Phenotype Score: 0.252
Variant Score: 0.645
- Transcripts:
- SMAD9:ENST00000379826.5:c.-187+20115G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.661933
- REMM: 0.662
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.627934
- REMM: 0.628
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.627934
- REMM: 0.628
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.584867
- REMM: 0.585
- Frequency Data:
- No frequency data
- Transcripts:
- SMAD9:ENST00000379826.5::
- Pathogenicity Data:
- Best Score: 0.552444
- REMM: 0.552
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.470948
- REMM: 0.471
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.455027
- REMM: 0.455
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.455027
- REMM: 0.455
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.448407
- REMM: 0.448
- Frequency Data:
- No frequency data
- Transcripts:
- SMAD9:ENST00000379826.5:c.413-1943_413-1940del:p.(=)
- Pathogenicity Data:
- Best Score: 0.388388
- REMM: 0.388
- Frequency Data:
- gnomAD_G_AFR: 0.6408%
- gnomAD_G_AMR: 0.1775%
- gnomAD_G_EAS: 0.0858%
- gnomAD_G_NFE: 0.2124%
- gnomAD_G_SAS: 0.1311%
- Transcripts:
- SMAD9:ENST00000379826.5:c.-186-7340del:p.(=)
- Pathogenicity Data:
- Best Score: 0.195107
- REMM: 0.195
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.195107
- REMM: 0.195
- Frequency Data:
- No frequency data
- Phenotypic similarity 0.590 to Ulnar-mammary syndrome associated with TBX3.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003186, Inverted nipples
- HP:0006625, Multifocal breast carcinoma - HP:0003186, Inverted nipples
- Phenotypic similarity 0.299 to mouse mutant involving TBX3.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0004509, abnormal pelvic girdle bone morphology
- HP:0006625, Multifocal breast carcinoma - MP:0004509, abnormal pelvic girdle bone morphology
- Proximity score 0.502 in interactome to CDKN2A and phenotypic similarity 0.998 to Familial pancreatic carcinoma associated with CDKN2A.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003002, Breast carcinoma
- HP:0006625, Multifocal breast carcinoma - HP:0003002, Breast carcinoma
- Proximity score 0.502 in interactome to CDKN2A and phenotypic similarity 0.290 to mouse mutant of CDKN2A.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0003789, increased osteosarcoma incidence
- HP:0006625, Multifocal breast carcinoma - MP:0003789, increased osteosarcoma incidence
- Known diseases:
- OMIM:181450 Ulnar-mammary syndrome - autosomal dominant
- ORPHA:3138 Ulnar-mammary syndrome - autosomal dominant
AUTOSOMAL_DOMINANT
Exomiser Score: 0.118 (p=2.5E-1)
Phenotype Score: 0.590
Variant Score: 0.560
- Phenotype matches to diseases consistent with this MOI:
- Phenotypic similarity 0.590 to OMIM:181450 Ulnar-mammary syndrome
- Phenotypic similarity 0.587 to ORPHA:3138 Ulnar-mammary syndrome
- Transcripts:
- TBX3:ENST00000349155.7::
- Pathogenicity Data:
- Best Score: 0.560138
- REMM: 0.560
- Frequency Data:
- No frequency data
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.004 (p=5.7E-1)
Phenotype Score: 0.251
Variant Score: 0.560
- Transcripts:
- TBX3:ENST00000349155.7::
- Pathogenicity Data:
- Best Score: 0.560138
- REMM: 0.560
- Frequency Data:
- No frequency data
- Transcripts:
- TBX3:ENST00000349155.7::
- Pathogenicity Data:
- Best Score: 0.560138
- REMM: 0.560
- Frequency Data:
- No frequency data
- Transcripts:
- TBX3:ENST00000349155.7::
- Pathogenicity Data:
- Best Score: 0.345943
- REMM: 0.346
- Frequency Data:
- No frequency data
- Transcripts:
- TBX3:ENST00000349155.7::
- Pathogenicity Data:
- Best Score: 0.00252341
- REMM: 0.003
- Frequency Data:
- No frequency data
- Phenotypic similarity 0.531 to Escobar syndrome associated with CHRNG.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0002557, Hypoplastic nipples
- HP:0006625, Multifocal breast carcinoma - HP:0002557, Hypoplastic nipples
- Proximity score 0.506 in interactome to DPAGT1 and phenotypic similarity 0.643 to Congenital disorder of glycosylation, type Ij associated with DPAGT1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003186, Inverted nipples
- HP:0006625, Multifocal breast carcinoma - HP:0003186, Inverted nipples
- Known diseases:
- OMIM:253290 Multiple pterygium syndrome, lethal type - autosomal recessive
- OMIM:265000 Escobar syndrome - autosomal recessive
- ORPHA:2990 Autosomal recessive multiple pterygium syndrome - autosomal recessive
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.118 (p=2.5E-1)
Phenotype Score: 0.531
Variant Score: 0.626
- Phenotype matches to diseases consistent with this MOI:
- Phenotypic similarity 0.531 to OMIM:265000 Escobar syndrome
- Phenotypic similarity 0.474 to ORPHA:2990 Autosomal recessive multiple pterygium syndrome
- Phenotypic similarity 0.434 to OMIM:253290 Multiple pterygium syndrome, lethal type
- Transcripts:
- Pathogenicity Data:
- Best Score: 0.902464
- REMM: 0.902
- Frequency Data:
- UK10K: 0.5554%
- gnomAD_G_AFR: 0.1107%
- gnomAD_G_AMR: 0.2485%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 0.5233%
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- UK10K: 0.9654%
- gnomAD_E_AFR: 0.1075%
- gnomAD_E_AMR: 0.2303%
- gnomAD_E_NFE: 0.9218%
- gnomAD_E_SAS: 1.0863%
- gnomAD_G_AFR: 0.1467%
- gnomAD_G_AMR: 0.4703%
- gnomAD_G_NFE: 0.8614%
- gnomAD_G_SAS: 0.9321%
- Proximity score 0.504 in interactome to STK11 and phenotypic similarity 0.998 to Peutz-Jeghers syndrome associated with STK11.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003002, Breast carcinoma
- HP:0006625, Multifocal breast carcinoma - HP:0003002, Breast carcinoma
- Proximity score 0.504 in interactome to STK11 and phenotypic similarity 0.306 to mouse mutant of STK11.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0002825, abnormal notochord morphology
- HP:0006625, Multifocal breast carcinoma - MP:0002825, abnormal notochord morphology
- Known diseases:
- OMIM:194200 Wolff-Parkinson-White syndrome - autosomal dominant
- OMIM:261740 Glycogen storage disease of heart, lethal congenital - autosomal dominant
- OMIM:600858 Cardiomyopathy, hypertrophic 6 - autosomal dominant
AUTOSOMAL_DOMINANT
Exomiser Score: 0.118 (p=2.5E-1)
Phenotype Score: 0.504
Variant Score: 0.657
- Pathogenicity Data:
- Best Score: 0.65736
- REMM: 0.657
- Frequency Data:
- No frequency data
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.106 (p=2.6E-1)
Phenotype Score: 0.252
Variant Score: 0.930
- Pathogenicity Data:
- Best Score: 0.929724
- REMM: 0.930
- Frequency Data:
- No frequency data
- Transcripts:
- PRKAG2:ENST00000287878.9:c.467-12404C>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.929724
- REMM: 0.930
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.609886
- REMM: 0.610
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.581349
- REMM: 0.581
- Frequency Data:
- gnomAD_G_NFE: 0.0077%
- Pathogenicity Data:
- Best Score: 0.501897
- REMM: 0.502
- Frequency Data:
- No frequency data
- Transcripts:
- PRKAG2:ENST00000287878.9:c.754+8705del:p.(=)
- Pathogenicity Data:
- Best Score: 0.476315
- REMM: 0.476
- Frequency Data:
- No frequency data
- Transcripts:
- PRKAG2:ENST00000287878.9:c.466+43130G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.414058
- REMM: 0.414
- Frequency Data:
- No frequency data
- Transcripts:
- PRKAG2:ENST00000287878.9:c.466+43076G>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.405837
- REMM: 0.406
- Frequency Data:
- No frequency data
- Transcripts:
- PRKAG2:ENST00000287878.9:c.755-8032G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.401652
- REMM: 0.402
- Frequency Data:
- No frequency data
- Transcripts:
- PRKAG2:ENST00000287878.9:c.684+1581del:p.(=)
- Pathogenicity Data:
- Best Score: 0.366698
- REMM: 0.367
- Frequency Data:
- No frequency data
- Transcripts:
- PRKAG2:ENST00000287878.9:c.466+19571G>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.521086
- REMM: 0.521
- Frequency Data:
- UK10K: 0.1455%
- gnomAD_G_AFR: 0.0241%
- gnomAD_G_AMR: 0.0589%
- gnomAD_G_NFE: 0.1661%
- gnomAD_G_SAS: 1.2033%
- Pathogenicity Data:
- Best Score: 0.310859
- REMM: 0.311
- Frequency Data:
- No frequency data
- Transcripts:
- PRKAG2:ENST00000287878.9:c.466+43116G>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.275058
- REMM: 0.275
- Frequency Data:
- No frequency data
- Transcripts:
- PRKAG2:ENST00000287878.9:c.466+43108G>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.270422
- REMM: 0.270
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.271729
- REMM: 0.272
- Frequency Data:
- gnomAD_G_AMR: 0.0727%
- gnomAD_G_NFE: 0.0027%
- Transcripts:
- PRKAG2:ENST00000287878.9:c.755-7976T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.268846
- REMM: 0.269
- Frequency Data:
- No frequency data
- Transcripts:
- PRKAG2:ENST00000287878.9:c.114+21253G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.273045
- REMM: 0.273
- Frequency Data:
- gnomAD_G_AFR: 0.0439%
- gnomAD_G_AMR: 0.1003%
- gnomAD_G_NFE: 0.1374%
- gnomAD_G_SAS: 0.0662%
- Transcripts:
- PRKAG2:ENST00000287878.9:c.114+21446T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.23559
- REMM: 0.236
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.370417
- REMM: 0.370
- Frequency Data:
- gnomAD_G_AFR: 1.3484%
- gnomAD_G_AMR: 1.1452%
- gnomAD_G_EAS: 0.2250%
- gnomAD_G_NFE: 1.2342%
- gnomAD_G_SAS: 0.8630%
- Transcripts:
- PRKAG2:ENST00000287878.9:c.114+21092A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.194677
- REMM: 0.195
- Frequency Data:
- No frequency data
- Transcripts:
- PRKAG2:ENST00000287878.9:c.114+21398T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.173702
- REMM: 0.174
- Frequency Data:
- No frequency data
- Transcripts:
- PRKAG2:ENST00000287878.9:c.114+21445A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.171988
- REMM: 0.172
- Frequency Data:
- No frequency data
- Transcripts:
- PRKAG2:ENST00000287878.9:c.115-44249C>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.171941
- REMM: 0.172
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.166015
- REMM: 0.166
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.157313
- REMM: 0.157
- Frequency Data:
- No frequency data
- Transcripts:
- PRKAG2:ENST00000287878.9:c.466+43070G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0914433
- REMM: 0.091
- Frequency Data:
- No frequency data
- Transcripts:
- PRKAG2:ENST00000287878.9:c.466+43067G>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0562639
- REMM: 0.056
- Frequency Data:
- No frequency data
- Transcripts:
- PRKAG2:ENST00000287878.9:c.115-29643T>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0430044
- REMM: 0.043
- Frequency Data:
- gnomAD_G_AMR: 0.0065%
- gnomAD_G_NFE: 0.0029%
- Transcripts:
- PRKAG2:ENST00000287878.9:c.114+21129C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0284422
- REMM: 0.028
- Frequency Data:
- gnomAD_G_AFR: 0.2143%
- gnomAD_G_AMR: 0.1587%
- gnomAD_G_NFE: 0.1894%
- Transcripts:
- PRKAG2:ENST00000287878.9:c.466+43119G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0214258
- REMM: 0.021
- Frequency Data:
- No frequency data
- Transcripts:
- PRKAG2:ENST00000287878.9:c.684+4248del:p.(=)
- Pathogenicity Data:
- Best Score: 0.0189353
- REMM: 0.019
- Frequency Data:
- No frequency data
- Transcripts:
- PRKAG2:ENST00000287878.9:c.115-32980G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0237984
- REMM: 0.024
- Frequency Data:
- gnomAD_G_AFR: 0.2719%
- gnomAD_G_AMR: 0.9809%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 1.2938%
- gnomAD_G_SAS: 0.2905%
- Transcripts:
- PRKAG2:ENST00000287878.9:c.115-8070G>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0137587
- REMM: 0.014
- Frequency Data:
- No frequency data
- Transcripts:
- PRKAG2:ENST00000287878.9:c.114+34059C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0126464
- REMM: 0.013
- Frequency Data:
- gnomAD_G_AFR: 0.0869%
- gnomAD_G_AMR: 0.0090%
- Pathogenicity Data:
- Best Score: 0.00867976
- REMM: 0.009
- Frequency Data:
- No frequency data
- Transcripts:
- PRKAG2:ENST00000287878.9:c.187-934C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.00749524
- REMM: 0.007
- Frequency Data:
- No frequency data
- Transcripts:
- PRKAG2:ENST00000287878.9:c.466+43125C>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.00234286
- REMM: 0.002
- Frequency Data:
- No frequency data
- Transcripts:
- PRKAG2:ENST00000287878.9:c.115-37928G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.00422222
- REMM: 0.004
- Frequency Data:
- UK10K: 1.6662%
- gnomAD_G_AFR: 0.2792%
- gnomAD_G_AMR: 0.9486%
- gnomAD_G_NFE: 1.3450%
- gnomAD_G_SAS: 0.3109%
- Transcripts:
- PRKAG2:ENST00000287878.9:c.114+26635T>C:p.(=)
- Pathogenicity Data:
- Best Score: 5.0E-4
- REMM: 0.001
- Frequency Data:
- gnomAD_G_NFE: 0.0044%
- Transcripts:
- PRKAG2:ENST00000287878.9:c.114+16423G>A:p.(=)
- Pathogenicity Data:
- Best Score: 1.66667E-4
- REMM: 0.000
- Frequency Data:
- gnomAD_G_NFE: 0.0029%
- Transcripts:
- PRKAG2:ENST00000287878.9:c.114+29843C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- gnomAD_G_NFE: 0.0191%
- Phenotypic similarity 0.998 to Hereditary breast and/or ovarian cancer syndrome associated with PTEN.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003002, Breast carcinoma
- HP:0006625, Multifocal breast carcinoma - HP:0003002, Breast carcinoma
- Phenotypic similarity 0.303 to zebrafish mutant involving PTEN.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - ZP:0000122, notochord undulate, abnormal
- HP:0006625, Multifocal breast carcinoma - ZP:0000122, notochord undulate, abnormal
- Proximity score 0.503 in interactome to STK11 and phenotypic similarity 0.998 to Peutz-Jeghers syndrome associated with STK11.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003002, Breast carcinoma
- HP:0006625, Multifocal breast carcinoma - HP:0003002, Breast carcinoma
- Proximity score 0.503 in interactome to STK11 and phenotypic similarity 0.306 to mouse mutant of STK11.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0002825, abnormal notochord morphology
- HP:0006625, Multifocal breast carcinoma - MP:0002825, abnormal notochord morphology
- Known diseases:
- OMIM:158350 Cowden syndrome 1 - autosomal dominant
- OMIM:176807 Prostate cancer, somatic - autosomal dominant
- OMIM:605309 Macrocephaly/autism syndrome - autosomal dominant
- OMIM:607174 Meningioma (susceptibility)
- OMIM:613028 Glioma susceptibility 2 (susceptibility)
- ORPHA:101070 Bilateral frontoparietal polymicrogyria - unknown
- ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome - autosomal dominant
- ORPHA:145 Hereditary breast and/or ovarian cancer syndrome - autosomal dominant
- ORPHA:201 Cowden syndrome - autosomal dominant
- ORPHA:210548 Macrocephaly-intellectual disability-autism syndrome - autosomal dominant
- ORPHA:2969 Proteus-like syndrome - autosomal dominant
- ORPHA:397596 Activated PI3K-delta syndrome - autosomal dominant
- ORPHA:65285 Lhermitte-Duclos disease - autosomal dominant
- ORPHA:744 Proteus syndrome - unknown
- ORPHA:79076 Juvenile polyposis of infancy (CNV)
AUTOSOMAL_DOMINANT
Exomiser Score: 0.116 (p=2.5E-1)
Phenotype Score: 0.998
Variant Score: 0.096
- Phenotype matches to diseases consistent with this MOI:
- Phenotypic similarity 0.998 to ORPHA:145 Hereditary breast and/or ovarian cancer syndrome
- Phenotypic similarity 0.910 to OMIM:158350 Cowden syndrome 1
- Phenotypic similarity 0.904 to ORPHA:201 Cowden syndrome
- Phenotypic similarity 0.887 to ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome
- Phenotypic similarity 0.876 to ORPHA:65285 Lhermitte-Duclos disease
- Phenotypic similarity 0.312 to ORPHA:79076 Juvenile polyposis of infancy
- Transcripts:
- PTEN:ENST00000371953.8::
- Pathogenicity Data:
- Best Score: 0.0962603
- REMM: 0.096
- Frequency Data:
- No frequency data
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.004 (p=5.7E-1)
Phenotype Score: 0.252
Variant Score: 0.566
- Transcripts:
- PTEN:ENST00000371953.8:c.492+6044_492+6047del:p.(=)
- Pathogenicity Data:
- Best Score: 0.566168
- REMM: 0.566
- Frequency Data:
- No frequency data
- Transcripts:
- PTEN:ENST00000371953.8:c.165-7502C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.748046
- REMM: 0.748
- Frequency Data:
- UK10K: 0.2248%
- gnomAD_G_AFR: 0.0440%
- gnomAD_G_AMR: 0.1651%
- gnomAD_G_NFE: 0.1868%
- gnomAD_G_SAS: 0.0622%
- Transcripts:
- PTEN:ENST00000371953.8::
- Pathogenicity Data:
- Best Score: 0.0962603
- REMM: 0.096
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.497723
- REMM: 0.498
- Frequency Data:
- gnomAD_G_AFR: 1.9381%
- gnomAD_G_AMR: 1.1316%
- gnomAD_G_EAS: 1.3131%
- gnomAD_G_NFE: 1.9875%
- gnomAD_G_SAS: 1.1155%
- Transcripts:
- PTEN:ENST00000371953.8:c.164+10180C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0538837
- REMM: 0.054
- Frequency Data:
- gnomAD_G_AFR: 0.0120%
- gnomAD_G_AMR: 0.0262%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 0.0221%
- Transcripts:
- PTEN:ENST00000371953.8:c.164+13425C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0141635
- REMM: 0.014
- Frequency Data:
- UK10K: 0.1455%
- gnomAD_G_AFR: 0.0190%
- gnomAD_G_AMR: 0.0210%
- gnomAD_G_NFE: 0.1018%
- Proximity score 0.501 in interactome to NUP107 and phenotypic similarity 0.676 to 46,XX gonadal dysgenesis associated with NUP107.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0010311, Aplasia/Hypoplasia of the breasts
- HP:0006625, Multifocal breast carcinoma - HP:0010311, Aplasia/Hypoplasia of the breasts
- Proximity score 0.501 in interactome to NUP107 and phenotypic similarity 0.225 to fish mutant of NUP107.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - ZP:0016453, pharyngeal arch has fewer parts of type chondroblast nuclear pore chondroblast, abnormal
- HP:0006625, Multifocal breast carcinoma - ZP:0016453, pharyngeal arch has fewer parts of type chondroblast nuclear pore chondroblast, abnormal
AUTOSOMAL_DOMINANT
Exomiser Score: 0.113 (p=2.5E-1)
Phenotype Score: 0.501
Variant Score: 0.655
- Pathogenicity Data:
- Best Score: 0.655187
- REMM: 0.655
- Frequency Data:
- No frequency data
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.113 (p=2.5E-1)
Phenotype Score: 0.501
Variant Score: 0.655
- Pathogenicity Data:
- Best Score: 0.655187
- REMM: 0.655
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.655187
- REMM: 0.655
- Frequency Data:
- No frequency data
- Transcripts:
- NUP153:ENST00000262077.3:c.1454C>T:p.(Pro485Leu)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- gnomAD_E_AFR: 0.0060%
- gnomAD_E_AMR: 0.0962%
- gnomAD_E_NFE: 0.0359%
- gnomAD_E_SAS: 0.0151%
- gnomAD_G_AFR: 0.0096%
- gnomAD_G_AMR: 0.0654%
- gnomAD_G_NFE: 0.0426%
- Transcripts:
- NUP153:ENST00000262077.3:c.853-550del:p.(=)
- Pathogenicity Data:
- Best Score: 0.488296
- REMM: 0.488
- Frequency Data:
- No frequency data
- Transcripts:
- NUP153:ENST00000262077.3:c.111+3678G>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.782735
- REMM: 0.783
- Frequency Data:
- UK10K: 1.1108%
- gnomAD_G_AFR: 0.1617%
- gnomAD_G_AMR: 0.9180%
- gnomAD_G_NFE: 1.4787%
- gnomAD_G_SAS: 1.5781%
- Transcripts:
- NUP153:ENST00000262077.3:c.111+8546T>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.439626
- REMM: 0.440
- Frequency Data:
- UK10K: 1.1108%
- gnomAD_G_AFR: 0.1676%
- gnomAD_G_AMR: 0.9031%
- gnomAD_G_NFE: 1.4796%
- gnomAD_G_SAS: 1.5783%
- Pathogenicity Data:
- Best Score: 0.240138
- REMM: 0.240
- Frequency Data:
- gnomAD_G_AFR: 0.1707%
- gnomAD_G_AMR: 1.0581%
- gnomAD_G_NFE: 1.5336%
- gnomAD_G_SAS: 1.6024%
- Transcripts:
- NUP153:ENST00000262077.3::
- Pathogenicity Data:
- Best Score: 0.0064
- REMM: 0.006
- Frequency Data:
- No frequency data
- Transcripts:
- NUP153:ENST00000262077.3::
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- UK10K: 1.4017%
- gnomAD_G_AFR: 0.3105%
- gnomAD_G_AMR: 0.3594%
- gnomAD_G_NFE: 1.6889%
- gnomAD_G_SAS: 0.2692%
- Phenotypic similarity 0.349 to mouse mutant involving GATA3.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0002116, abnormal craniofacial bone morphology
- HP:0006625, Multifocal breast carcinoma - MP:0002116, abnormal craniofacial bone morphology
- Phenotypic similarity 0.281 to zebrafish mutant involving GATA3.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - ZP:0010443, neurocranium lacks all parts of type neurocranial trabecula, abnormal
- HP:0006625, Multifocal breast carcinoma - ZP:0010443, neurocranium lacks all parts of type neurocranial trabecula, abnormal
- Proximity score 0.510 in interactome to ZFPM2 and phenotypic similarity 0.614 to 46,XY partial gonadal dysgenesis associated with ZFPM2.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0000771, Gynecomastia
- HP:0006625, Multifocal breast carcinoma - HP:0000771, Gynecomastia
- Known diseases:
- OMIM:146255 Hypoparathyroidism, sensorineural deafness, and renal dysplasia - autosomal dominant
- ORPHA:2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome - autosomal dominant
AUTOSOMAL_DOMINANT
Exomiser Score: 0.113 (p=2.5E-1)
Phenotype Score: 0.510
Variant Score: 0.645
- Transcripts:
- GATA3:ENST00000379328.9::
- Pathogenicity Data:
- Best Score: 0.645238
- REMM: 0.645
- Frequency Data:
- No frequency data
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.008 (p=4.9E-1)
Phenotype Score: 0.255
Variant Score: 0.637
- Transcripts:
- GATA3:ENST00000379328.9::
- Pathogenicity Data:
- Best Score: 0.645238
- REMM: 0.645
- Frequency Data:
- No frequency data
- Transcripts:
- GATA3:ENST00000379328.9:c.924+2526G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.794661
- REMM: 0.795
- Frequency Data:
- UK10K: 0.1455%
- gnomAD_G_AFR: 0.0169%
- gnomAD_G_AMR: 0.0849%
- gnomAD_G_NFE: 0.1485%
- gnomAD_G_SAS: 0.9328%
- Transcripts:
- GATA3:ENST00000379328.9::
- Pathogenicity Data:
- Best Score: 0.380428
- REMM: 0.380
- Frequency Data:
- No frequency data
- Transcripts:
- GATA3:ENST00000379328.9:c.1051-594del:p.(=)
- Pathogenicity Data:
- Best Score: 0.328278
- REMM: 0.328
- Frequency Data:
- No frequency data
- Transcripts:
- GATA3:ENST00000379328.9::
- Pathogenicity Data:
- Best Score: 0.32161
- REMM: 0.322
- Frequency Data:
- No frequency data
- Transcripts:
- GATA3:ENST00000379328.9::
- Pathogenicity Data:
- Best Score: 0.292211
- REMM: 0.292
- Frequency Data:
- No frequency data
- Transcripts:
- GATA3:ENST00000379328.9::
- Pathogenicity Data:
- Best Score: 0.195578
- REMM: 0.196
- Frequency Data:
- No frequency data
- Transcripts:
- GATA3:ENST00000379328.9::
- Pathogenicity Data:
- Best Score: 0.195578
- REMM: 0.196
- Frequency Data:
- gnomAD_G_AFR: 0.4997%
- gnomAD_G_AMR: 0.3000%
- gnomAD_G_EAS: 0.6173%
- gnomAD_G_NFE: 0.7926%
- Transcripts:
- GATA3:ENST00000379328.9::
- Pathogenicity Data:
- Best Score: 0.023881
- REMM: 0.024
- Frequency Data:
- gnomAD_G_AFR: 0.0024%
- gnomAD_G_NFE: 0.0177%
- gnomAD_G_SAS: 0.0208%
- Transcripts:
- GATA3:ENST00000379328.9:c.1050+69C>G:p.(=)
- Pathogenicity Data:
- Best Score: 2.77778E-4
- REMM: 0.000
- Frequency Data:
- No frequency data
- Transcripts:
- GATA3:ENST00000379328.9::
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- UK10K: 0.2645%
- gnomAD_G_AFR: 0.1159%
- gnomAD_G_AMR: 0.6884%
- gnomAD_G_EAS: 0.0387%
- gnomAD_G_NFE: 0.5325%
- gnomAD_G_SAS: 1.8919%
- Phenotypic similarity 0.368 to Synaptic congenital myasthenic syndromes associated with LAMB2.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003691, Scapular winging
- HP:0006625, Multifocal breast carcinoma - HP:0003691, Scapular winging
- Phenotypic similarity 0.323 to zebrafish mutant involving LAMB2.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - ZP:0000624, notochord morphology, abnormal
- HP:0006625, Multifocal breast carcinoma - ZP:0000624, notochord morphology, abnormal
- Proximity score 0.502 in interactome to ITGA3 and phenotypic similarity 0.603 to Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome associated with ITGA3.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0000771, Gynecomastia
- HP:0006625, Multifocal breast carcinoma - HP:0000771, Gynecomastia
- Known diseases:
- OMIM:609049 Pierson syndrome - autosomal recessive
- OMIM:614199 Nephrotic syndrome, type 5, with or without ocular abnormalities - autosomal recessive
- ORPHA:98915 Synaptic congenital myasthenic syndromes - unknown
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.111 (p=2.5E-1)
Phenotype Score: 0.502
Variant Score: 0.653
- Transcripts:
- LAMB2:ENST00000305544.9:c.4573+26A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.913398
- REMM: 0.913
- Frequency Data:
- gnomAD_E_NFE: 0.0020%
- gnomAD_E_SAS: 0.0885%
- gnomAD_G_AFR: 0.0024%
- gnomAD_G_NFE: 0.0029%
- gnomAD_G_SAS: 0.0621%
- Transcripts:
- LAMB2:ENST00000305544.9::
- Pathogenicity Data:
- Best Score: 0.403236
- REMM: 0.403
- Frequency Data:
- No frequency data
AUTOSOMAL_DOMINANT
Exomiser Score: 0.083 (p=2.8E-1)
Phenotype Score: 0.251
Variant Score: 0.902
- Transcripts:
- LAMB2:ENST00000305544.9:c.4573+26A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.913398
- REMM: 0.913
- Frequency Data:
- gnomAD_E_NFE: 0.0020%
- gnomAD_E_SAS: 0.0885%
- gnomAD_G_AFR: 0.0024%
- gnomAD_G_NFE: 0.0029%
- gnomAD_G_SAS: 0.0621%
- Transcripts:
- LAMB2:ENST00000305544.9:c.712+34C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.147075
- REMM: 0.147
- Frequency Data:
- UK10K: 0.0793%
- gnomAD_E_AFR: 0.0060%
- gnomAD_E_AMR: 0.0784%
- gnomAD_E_EAS: 0.0025%
- gnomAD_E_NFE: 0.0538%
- gnomAD_E_SAS: 0.6328%
- gnomAD_G_AFR: 0.0096%
- gnomAD_G_AMR: 0.1766%
- gnomAD_G_NFE: 0.0441%
- gnomAD_G_SAS: 0.4137%
- Transcripts:
- LAMB2:ENST00000305544.9:c.2307C>T:p.(=)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- UK10K: 0.4761%
- gnomAD_E_AFR: 0.0538%
- gnomAD_E_AMR: 0.1789%
- gnomAD_E_NFE: 0.3835%
- gnomAD_E_SAS: 0.7118%
- gnomAD_G_AFR: 0.0914%
- gnomAD_G_AMR: 0.3202%
- gnomAD_G_NFE: 0.3704%
- gnomAD_G_SAS: 0.4975%
- Phenotypic similarity 0.321 to mouse mutant involving UBE3A.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0010124, decreased bone mineral content
- HP:0006625, Multifocal breast carcinoma - MP:0010124, decreased bone mineral content
- Proximity score 0.502 in interactome to TERT and phenotypic similarity 0.950 to Familial melanoma associated with TERT.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0100013, Neoplasm of the breast
- HP:0006625, Multifocal breast carcinoma - HP:0100013, Neoplasm of the breast
- Proximity score 0.502 in interactome to TERT and phenotypic similarity 0.357 to mouse mutant of TERT.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0003345, decreased rib number
- HP:0006625, Multifocal breast carcinoma - MP:0003345, decreased rib number
- Known diseases:
- OMIM:105830 Angelman syndrome - autosomal dominant
- ORPHA:238446 15q11q13 microduplication syndrome (CNV)
- ORPHA:411511 Angelman syndrome due to a point mutation - autosomal dominant
- ORPHA:98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15 (CNV)
AUTOSOMAL_DOMINANT
Exomiser Score: 0.110 (p=2.6E-1)
Phenotype Score: 0.502
Variant Score: 0.651
- Pathogenicity Data:
- Best Score: 0.650681
- REMM: 0.651
- Frequency Data:
- No frequency data
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.007 (p=5.1E-1)
Phenotype Score: 0.251
Variant Score: 0.625
- Pathogenicity Data:
- Best Score: 0.650681
- REMM: 0.651
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.599336
- REMM: 0.599
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.594411
- REMM: 0.594
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.534594
- REMM: 0.535
- Frequency Data:
- No frequency data
- Transcripts:
- UBE3A:ENST00000648336.2:c.*2663_*2664insTT:p.(=)
- Pathogenicity Data:
- Best Score: 0.494742
- REMM: 0.495
- Frequency Data:
- UK10K: 0.0132%
- gnomAD_G_AMR: 0.0065%
- gnomAD_G_NFE: 0.0074%
- Transcripts:
- UBE3A:ENST00000648336.2:c.62+7293del:p.(=)
- Pathogenicity Data:
- Best Score: 0.354113
- REMM: 0.354
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.310096
- REMM: 0.310
- Frequency Data:
- No frequency data
- Transcripts:
- UBE3A:ENST00000648336.2:c.62+2250G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.00439802
- REMM: 0.004
- Frequency Data:
- gnomAD_G_AFR: 0.0048%
- gnomAD_G_AMR: 0.0327%
- gnomAD_G_NFE: 0.0176%
- gnomAD_G_SAS: 0.0207%
- Proximity score 0.506 in interactome to HS6ST1 and phenotypic similarity 0.620 to Kallmann syndrome associated with HS6ST1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003187, Breast hypoplasia
- HP:0006625, Multifocal breast carcinoma - HP:0003187, Breast hypoplasia
- Proximity score 0.506 in interactome to HS6ST1 and phenotypic similarity 0.318 to mouse mutant of HS6ST1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0002113, abnormal skeleton development
- HP:0006625, Multifocal breast carcinoma - MP:0002113, abnormal skeleton development
- Known diseases:
- OMIM:619367 ?Angioedema, hereditary, 8 (unconfirmed)
AUTOSOMAL_DOMINANT
Exomiser Score: 0.108 (p=2.6E-1)
Phenotype Score: 0.506
Variant Score: 0.645
- Pathogenicity Data:
- Best Score: 0.644612
- REMM: 0.645
- Frequency Data:
- No frequency data
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.001 (p=7.7E-1)
Phenotype Score: 0.253
Variant Score: 0.357
- Pathogenicity Data:
- Best Score: 0.644612
- REMM: 0.645
- Frequency Data:
- No frequency data
- Transcripts:
- HS3ST6:ENST00000454677.3::
- Pathogenicity Data:
- Best Score: 0.0702964
- REMM: 0.070
- Frequency Data:
- gnomAD_G_AMR: 0.0327%
- gnomAD_G_NFE: 0.0015%
- Proximity score 0.505 in interactome to SH3PXD2B and phenotypic similarity 0.614 to Frank-Ter Haar syndrome associated with SH3PXD2B.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0000771, Gynecomastia
- HP:0006625, Multifocal breast carcinoma - HP:0000771, Gynecomastia
- Proximity score 0.505 in interactome to SH3PXD2B and phenotypic similarity 0.346 to mouse mutant of SH3PXD2B.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0000160, kyphosis
- HP:0006625, Multifocal breast carcinoma - MP:0000160, kyphosis
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.105 (p=2.6E-1)
Phenotype Score: 0.505
Variant Score: 0.642
- Transcripts:
- KIF9:ENST00000684063.1:c.1924+1058T>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.794208
- REMM: 0.794
- Frequency Data:
- UK10K: 0.6348%
- gnomAD_E_AFR: 0.1381%
- gnomAD_E_AMR: 0.4557%
- gnomAD_E_NFE: 0.5332%
- gnomAD_E_SAS: 0.0529%
- gnomAD_G_AFR: 0.0722%
- gnomAD_G_AMR: 0.6803%
- gnomAD_G_NFE: 0.6101%
- gnomAD_G_SAS: 0.0623%
- Transcripts:
- KIF9:ENST00000684063.1:c.910T>A:p.(Ser304Thr)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- UK10K: 0.0132%
- gnomAD_E_AFR: 0.0090%
- gnomAD_E_AMR: 0.0581%
- gnomAD_E_NFE: 0.0348%
- gnomAD_G_AFR: 0.0097%
- gnomAD_G_AMR: 0.0262%
- gnomAD_G_NFE: 0.0559%
AUTOSOMAL_DOMINANT
Exomiser Score: 0.071 (p=2.9E-1)
Phenotype Score: 0.505
Variant Score: 0.595
- Transcripts:
- KIF9:ENST00000684063.1:c.910T>A:p.(Ser304Thr)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- UK10K: 0.0132%
- gnomAD_E_AFR: 0.0090%
- gnomAD_E_AMR: 0.0581%
- gnomAD_E_NFE: 0.0348%
- gnomAD_G_AFR: 0.0097%
- gnomAD_G_AMR: 0.0262%
- gnomAD_G_NFE: 0.0559%
- Pathogenicity Data:
- Best Score: 0.327797
- REMM: 0.328
- Frequency Data:
- gnomAD_G_AFR: 0.7703%
- gnomAD_G_AMR: 0.5240%
- gnomAD_G_EAS: 0.1054%
- gnomAD_G_NFE: 0.9174%
- gnomAD_G_SAS: 0.6133%
- Transcripts:
- KIF9:ENST00000684063.1:c.1060-2317G>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.667955
- REMM: 0.668
- Frequency Data:
- UK10K: 1.3621%
- gnomAD_E_AFR: 0.5319%
- gnomAD_E_AMR: 0.6949%
- gnomAD_E_NFE: 1.3821%
- gnomAD_E_SAS: 1.7927%
- gnomAD_G_AFR: 0.5150%
- gnomAD_G_AMR: 0.8301%
- gnomAD_G_NFE: 1.6203%
- gnomAD_G_SAS: 1.9900%
- Transcripts:
- KIF9:ENST00000684063.1:c.592-1789C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.001
- REMM: 0.001
- Frequency Data:
- gnomAD_G_AFR: 0.0024%
- gnomAD_G_NFE: 0.0132%
- Proximity score 0.504 in interactome to FGF17 and phenotypic similarity 0.620 to Kallmann syndrome associated with FGF17.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003187, Breast hypoplasia
- HP:0006625, Multifocal breast carcinoma - HP:0003187, Breast hypoplasia
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.104 (p=2.6E-1)
Phenotype Score: 0.504
Variant Score: 0.642
- Transcripts:
- FGFR4:ENST00000292408.9:c.728-240C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.749834
- REMM: 0.750
- Frequency Data:
- UK10K: 0.3174%
- gnomAD_G_AFR: 0.0601%
- gnomAD_G_AMR: 0.1764%
- gnomAD_G_NFE: 0.3558%
- gnomAD_G_SAS: 0.4146%
- Transcripts:
- FGFR4:ENST00000292408.9::
- Pathogenicity Data:
- Best Score: 0.586212
- REMM: 0.586
- Frequency Data:
- No frequency data
AUTOSOMAL_DOMINANT
Exomiser Score: 0.065 (p=3.0E-1)
Phenotype Score: 0.504
Variant Score: 0.586
- Transcripts:
- FGFR4:ENST00000292408.9::
- Pathogenicity Data:
- Best Score: 0.586212
- REMM: 0.586
- Frequency Data:
- No frequency data
- Transcripts:
- FGFR4:ENST00000292408.9::
- Pathogenicity Data:
- Best Score: 0.668273
- REMM: 0.668
- Frequency Data:
- UK10K: 0.4364%
- gnomAD_G_AFR: 0.1107%
- gnomAD_G_AMR: 0.5035%
- gnomAD_G_NFE: 0.7350%
- gnomAD_G_SAS: 0.6832%
- Transcripts:
- FGFR4:ENST00000292408.9:c.2153+207_2153+215del:p.(=)
- Pathogenicity Data:
- Best Score: 0.565623
- REMM: 0.566
- Frequency Data:
- No frequency data
- Transcripts:
- FGFR4:ENST00000292408.9:c.2153+268C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.376392
- REMM: 0.376
- Frequency Data:
- No frequency data
- Transcripts:
- FGFR4:ENST00000292408.9::
- Pathogenicity Data:
- Best Score: 0.368346
- REMM: 0.368
- Frequency Data:
- UK10K: 0.4628%
- gnomAD_G_AFR: 0.2295%
- gnomAD_G_AMR: 0.8736%
- gnomAD_G_NFE: 0.7878%
- gnomAD_G_SAS: 0.7292%
- Transcripts:
- FGFR4:ENST00000292408.9::
- Pathogenicity Data:
- Best Score: 0.47386
- REMM: 0.474
- Frequency Data:
- gnomAD_G_AFR: 0.0763%
- gnomAD_G_AMR: 0.3988%
- gnomAD_G_EAS: 1.3402%
- gnomAD_G_NFE: 0.4193%
- gnomAD_G_SAS: 0.4792%
- Transcripts:
- FGFR4:ENST00000292408.9:c.1519+628G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0395583
- REMM: 0.040
- Frequency Data:
- UK10K: 1.2298%
- gnomAD_G_AFR: 0.1878%
- gnomAD_G_AMR: 0.3856%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 1.1107%
- gnomAD_G_SAS: 0.5604%
- Transcripts:
- FGFR4:ENST00000292408.9:c.2153+241T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.00116667
- REMM: 0.001
- Frequency Data:
- No frequency data
- Transcripts:
- FGFR4:ENST00000292408.9:c.1519+236C>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- gnomAD_G_NFE: 0.0118%
- gnomAD_G_SAS: 0.0208%
- Proximity score 0.501 in interactome to GNAS and phenotypic similarity 0.998 to McCune-Albright syndrome associated with GNAS.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003002, Breast carcinoma
- HP:0006625, Multifocal breast carcinoma - HP:0003002, Breast carcinoma
- Proximity score 0.501 in interactome to GNAS and phenotypic similarity 0.322 to mouse mutant of GNAS.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0014167, ectopic bone
- HP:0006625, Multifocal breast carcinoma - MP:0014167, ectopic bone
- Known diseases:
- OMIM:609161 Striatal degeneration, autosomal dominant - autosomal dominant
- OMIM:614190 Pigmented nodular adrenocortical disease, primary, 3 - autosomal dominant
- ORPHA:228169 Autosomal dominant striatal neurodegeneration - autosomal dominant
AUTOSOMAL_DOMINANT
Exomiser Score: 0.102 (p=2.6E-1)
Phenotype Score: 0.501
Variant Score: 0.642
- Pathogenicity Data:
- Best Score: 0.642004
- REMM: 0.642
- Frequency Data:
- No frequency data
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.005 (p=5.4E-1)
Phenotype Score: 0.251
Variant Score: 0.594
- Pathogenicity Data:
- Best Score: 0.642004
- REMM: 0.642
- Frequency Data:
- No frequency data
- Transcripts:
- PDE8B:ENST00000264917.10:c.2418+647T>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.546921
- REMM: 0.547
- Frequency Data:
- gnomAD_G_NFE: 0.0059%
- Transcripts:
- PDE8B:ENST00000264917.10:c.1911+2043del:p.(=)
- Pathogenicity Data:
- Best Score: 0.429145
- REMM: 0.429
- Frequency Data:
- No frequency data
- Transcripts:
- PDE8B:ENST00000264917.10:c.1168-13382del:p.(=)
- Pathogenicity Data:
- Best Score: 0.235232
- REMM: 0.235
- Frequency Data:
- No frequency data
- Transcripts:
- PDE8B:ENST00000264917.10:c.340-22690A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.626104
- REMM: 0.626
- Frequency Data:
- UK10K: 1.7720%
- gnomAD_G_AFR: 0.2645%
- gnomAD_G_AMR: 1.6222%
- gnomAD_G_EAS: 0.0385%
- gnomAD_G_NFE: 1.8255%
- gnomAD_G_SAS: 1.0982%
- Pathogenicity Data:
- Best Score: 0.135403
- REMM: 0.135
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.135403
- REMM: 0.135
- Frequency Data:
- No frequency data
- Transcripts:
- PDE8B:ENST00000264917.10:c.400-4396del:p.(=)
- Pathogenicity Data:
- Best Score: 0.0883365
- REMM: 0.088
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.275274
- REMM: 0.275
- Frequency Data:
- gnomAD_G_AFR: 0.4276%
- gnomAD_G_AMR: 0.7488%
- gnomAD_G_EAS: 0.1113%
- gnomAD_G_NFE: 1.9684%
- gnomAD_G_SAS: 0.4323%
- Transcripts:
- PDE8B:ENST00000264917.10:c.339+47821A>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.00942381
- REMM: 0.009
- Frequency Data:
- No frequency data
- Transcripts:
- PDE8B:ENST00000264917.10::
- Pathogenicity Data:
- Best Score: 0.00178333
- REMM: 0.002
- Frequency Data:
- UK10K: 1.1373%
- gnomAD_G_AFR: 0.2024%
- gnomAD_G_AMR: 0.5168%
- gnomAD_G_NFE: 1.1985%
- gnomAD_G_SAS: 0.2286%
- Transcripts:
- PDE8B:ENST00000264917.10:c.1167+14125del:p.(=)
- Pathogenicity Data:
- Best Score: 0.00106667
- REMM: 0.001
- Frequency Data:
- No frequency data
- Transcripts:
- PDE8B:ENST00000264917.10:c.1168-4876C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.001
- REMM: 0.001
- Frequency Data:
- No frequency data
- Transcripts:
- PDE8B:ENST00000264917.10:c.1168-4897A>G:p.(=)
- Pathogenicity Data:
- Best Score: 5.35714E-4
- REMM: 0.001
- Frequency Data:
- No frequency data
- Transcripts:
- PDE8B:ENST00000264917.10:c.340-2051C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- No frequency data
- Transcripts:
- PDE8B:ENST00000264917.10:c.1167+3149A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- UK10K: 0.0397%
- gnomAD_G_AFR: 0.0072%
- gnomAD_G_AMR: 0.0393%
- gnomAD_G_NFE: 0.0839%
- gnomAD_G_SAS: 0.0208%
- Transcripts:
- PDE8B:ENST00000264917.10:c.1168-4911A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- No frequency data
- Transcripts:
- PDE8B:ENST00000264917.10:c.1168-4881A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- No frequency data
- Transcripts:
- PDE8B:ENST00000264917.10:c.1168-4875C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- No frequency data
- Transcripts:
- PDE8B:ENST00000264917.10:c.1168-4858T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- No frequency data
- Phenotypic similarity 0.325 to mouse mutant involving PAPSS2.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0008525, decreased cranium height
- HP:0006625, Multifocal breast carcinoma - MP:0008525, decreased cranium height
- Proximity score 0.504 in interactome to SEMA3A and phenotypic similarity 0.620 to Kallmann syndrome associated with SEMA3A.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003187, Breast hypoplasia
- HP:0006625, Multifocal breast carcinoma - HP:0003187, Breast hypoplasia
- Proximity score 0.504 in interactome to SEMA3A and phenotypic similarity 0.363 to mouse mutant of SEMA3A.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0000150, abnormal rib morphology
- HP:0006625, Multifocal breast carcinoma - MP:0000150, abnormal rib morphology
- Known diseases:
- OMIM:612847 Brachyolmia 4 with mild epiphyseal and metaphyseal changes - autosomal recessive
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.100 (p=2.6E-1)
Phenotype Score: 0.504
Variant Score: 0.637
- Transcripts:
- PAPSS2:ENST00000456849.2:c.753+208G>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.740815
- REMM: 0.741
- Frequency Data:
- UK10K: 0.0397%
- gnomAD_G_AFR: 0.0024%
- gnomAD_G_AMR: 0.1242%
- gnomAD_G_NFE: 0.0456%
- gnomAD_G_SAS: 0.3113%
- Pathogenicity Data:
- Best Score: 0.774244
- REMM: 0.774
- Frequency Data:
- gnomAD_G_AFR: 0.1312%
- gnomAD_G_AMR: 0.1702%
- gnomAD_G_EAS: 0.3852%
- gnomAD_G_NFE: 0.2018%
- gnomAD_G_SAS: 1.0811%
AUTOSOMAL_DOMINANT
Exomiser Score: 0.001 (p=7.4E-1)
Phenotype Score: 0.252
Variant Score: 0.385
- Transcripts:
- PAPSS2:ENST00000456849.2:c.28-1631_28-1629del:p.(=)
- Pathogenicity Data:
- Best Score: 0.385048
- REMM: 0.385
- Frequency Data:
- No frequency data
- Transcripts:
- PAPSS2:ENST00000456849.2::
- Pathogenicity Data:
- Best Score: 0.478859
- REMM: 0.479
- Frequency Data:
- gnomAD_G_AFR: 0.0666%
- gnomAD_G_AMR: 0.2080%
- gnomAD_G_NFE: 0.0999%
- gnomAD_G_SAS: 0.2732%
- Transcripts:
- PAPSS2:ENST00000456849.2:c.28-3087_28-3080del:p.(=)
- Pathogenicity Data:
- Best Score: 0.341014
- REMM: 0.341
- Frequency Data:
- gnomAD_G_AFR: 1.0809%
- gnomAD_G_AMR: 0.3870%
- gnomAD_G_EAS: 0.3827%
- gnomAD_G_NFE: 0.7903%
- gnomAD_G_SAS: 0.2069%
- Transcripts:
- PAPSS2:ENST00000456849.2:c.28-11988A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.471984
- REMM: 0.472
- Frequency Data:
- UK10K: 1.4943%
- gnomAD_G_AFR: 0.2889%
- gnomAD_G_AMR: 0.7716%
- gnomAD_G_NFE: 1.5028%
- gnomAD_G_SAS: 0.2492%
- Transcripts:
- PAPSS2:ENST00000456849.2:c.28-3087_28-3086del:p.(=)
- Pathogenicity Data:
- Best Score: 0.325276
- REMM: 0.325
- Frequency Data:
- gnomAD_G_AFR: 1.3811%
- gnomAD_G_AMR: 0.5077%
- gnomAD_G_EAS: 1.0549%
- gnomAD_G_NFE: 0.2142%
- gnomAD_G_SAS: 0.1379%
- Transcripts:
- PAPSS2:ENST00000456849.2:c.1087-4971del:p.(=)
- Pathogenicity Data:
- Best Score: 0.158964
- REMM: 0.159
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.131473
- REMM: 0.131
- Frequency Data:
- No frequency data
- Transcripts:
- PAPSS2:ENST00000456849.2:c.1167C>T:p.(=)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- UK10K: 0.0264%
- gnomAD_E_AFR: 0.0060%
- gnomAD_E_AMR: 0.0268%
- gnomAD_E_NFE: 0.0209%
- gnomAD_E_SAS: 0.2667%
- gnomAD_G_AFR: 0.0072%
- gnomAD_G_AMR: 0.1242%
- gnomAD_G_NFE: 0.0456%
- gnomAD_G_SAS: 0.3111%
- Transcripts:
- PAPSS2:ENST00000456849.2:c.*145_*146insT:p.(=)
- Pathogenicity Data:
- Best Score: 0.0358683
- REMM: 0.036
- Frequency Data:
- gnomAD_E_AFR: 0.0080%
- gnomAD_E_AMR: 0.1132%
- gnomAD_E_EAS: 0.0110%
- gnomAD_E_NFE: 0.0597%
- gnomAD_E_SAS: 0.3468%
- gnomAD_G_AFR: 0.0156%
- gnomAD_G_AMR: 0.1863%
- gnomAD_G_NFE: 0.0623%
- gnomAD_G_SAS: 0.4506%
- Phenotypic similarity 0.460 to Rhizomelic chondrodysplasia punctata, type 5 associated with PEX5.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0002943, Thoracic scoliosis
- HP:0006625, Multifocal breast carcinoma - HP:0002943, Thoracic scoliosis
- Proximity score 0.513 in interactome to PEX3 and phenotypic similarity 0.643 to ?Peroxisome biogenesis disorder 10B associated with PEX3.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003186, Inverted nipples
- HP:0006625, Multifocal breast carcinoma - HP:0003186, Inverted nipples
- Proximity score 0.513 in interactome to PEX3 and phenotypic similarity 0.362 to mouse mutant of PEX3.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0000137, abnormal vertebrae morphology
- HP:0006625, Multifocal breast carcinoma - MP:0000137, abnormal vertebrae morphology
- Known diseases:
- OMIM:202370 Peroxisome biogenesis disorder 2B - autosomal recessive
- OMIM:214110 Peroxisome biogenesis disorder 2A (Zellweger) - autosomal recessive
- OMIM:616716 Rhizomelic chondrodysplasia punctata, type 5 - autosomal recessive
- ORPHA:44 Neonatal adrenoleukodystrophy - autosomal recessive
- ORPHA:772 Infantile Refsum disease - autosomal recessive
- ORPHA:912 Zellweger syndrome - autosomal recessive
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.099 (p=2.6E-1)
Phenotype Score: 0.513
Variant Score: 0.627
- Phenotype matches to diseases consistent with this MOI:
- Phenotypic similarity 0.460 to OMIM:616716 Rhizomelic chondrodysplasia punctata, type 5
- Transcripts:
- PEX5:ENST00000675855.1::
- Pathogenicity Data:
- Best Score: 0.810931
- REMM: 0.811
- Frequency Data:
- UK10K: 0.3967%
- gnomAD_G_AFR: 0.1155%
- gnomAD_G_AMR: 0.9804%
- gnomAD_G_EAS: 0.0386%
- gnomAD_G_NFE: 0.7204%
- gnomAD_G_SAS: 0.3109%
- Transcripts:
- PEX5:ENST00000675855.1::
- Pathogenicity Data:
- Best Score: 0.822997
- REMM: 0.823
- Frequency Data:
- UK10K: 0.5819%
- gnomAD_G_AFR: 0.1252%
- gnomAD_G_AMR: 1.0200%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 0.7102%
- gnomAD_G_SAS: 0.8085%
AUTOSOMAL_DOMINANT
Exomiser Score: 0.000 (p=8.5E-1)
Phenotype Score: 0.256
Variant Score: 0.264
- Transcripts:
- PEX5:ENST00000675855.1:c.449-2413_449-2411del:p.(=)
- Pathogenicity Data:
- Best Score: 0.264332
- REMM: 0.264
- Frequency Data:
- No frequency data
- Transcripts:
- PEX5:ENST00000675855.1:c.449-2465_449-2463del:p.(=)
- Pathogenicity Data:
- Best Score: 0.260492
- REMM: 0.260
- Frequency Data:
- gnomAD_G_AFR: 0.0641%
- gnomAD_G_AMR: 0.0637%
- gnomAD_G_EAS: 0.1068%
- gnomAD_G_NFE: 0.0865%
- Transcripts:
- PEX5:ENST00000675855.1:c.449-2461_449-2457del:p.(=)
- Pathogenicity Data:
- Best Score: 0.26773
- REMM: 0.268
- Frequency Data:
- gnomAD_G_AFR: 0.0092%
- gnomAD_G_AMR: 0.0915%
- gnomAD_G_NFE: 0.1238%
- gnomAD_G_SAS: 0.2742%
- Transcripts:
- PEX5:ENST00000675855.1:c.449-2386_449-2384del:p.(=)
- Pathogenicity Data:
- Best Score: 0.235063
- REMM: 0.235
- Frequency Data:
- No frequency data
- Transcripts:
- PEX5:ENST00000675855.1:c.449-2368C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.207858
- REMM: 0.208
- Frequency Data:
- No frequency data
- Transcripts:
- PEX5:ENST00000675855.1:c.449-2233C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.199525
- REMM: 0.200
- Frequency Data:
- No frequency data
- Transcripts:
- PEX5:ENST00000675855.1:c.449-2341C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.189662
- REMM: 0.190
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.183825
- REMM: 0.184
- Frequency Data:
- No frequency data
- Transcripts:
- PEX5:ENST00000675855.1:c.449-2260C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.178469
- REMM: 0.178
- Frequency Data:
- No frequency data
- Transcripts:
- PEX5:ENST00000675855.1:c.449-2181C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.175529
- REMM: 0.176
- Frequency Data:
- No frequency data
- Transcripts:
- PEX5:ENST00000675855.1:c.449-2314C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.176314
- REMM: 0.176
- Frequency Data:
- gnomAD_G_AFR: 0.0551%
- Transcripts:
- PEX5:ENST00000675855.1:c.449-2206C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.162212
- REMM: 0.162
- Frequency Data:
- No frequency data
- Transcripts:
- PEX5:ENST00000675855.1:c.449-2287C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.195392
- REMM: 0.195
- Frequency Data:
- gnomAD_G_AMR: 1.0638%
- Pathogenicity Data:
- Best Score: 0.112399
- REMM: 0.112
- Frequency Data:
- gnomAD_G_AFR: 0.4184%
- gnomAD_G_AMR: 0.8065%
- gnomAD_G_EAS: 0.1984%
- gnomAD_G_NFE: 0.1080%
- Transcripts:
- PEX5:ENST00000675855.1::
- Pathogenicity Data:
- Best Score: 0.108461
- REMM: 0.108
- Frequency Data:
- gnomAD_G_AFR: 0.1164%
- gnomAD_G_AMR: 0.9596%
- gnomAD_G_EAS: 0.0388%
- gnomAD_G_NFE: 0.7083%
- gnomAD_G_SAS: 0.3713%
- Transcripts:
- PEX5:ENST00000675855.1:c.449-1924C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0627
- REMM: 0.063
- Frequency Data:
- gnomAD_G_NFE: 0.0271%
- Transcripts:
- PEX5:ENST00000675855.1:c.449-2395C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.18997
- REMM: 0.190
- Frequency Data:
- gnomAD_G_AFR: 1.8519%
- Transcripts:
- PEX5:ENST00000675855.1::
- Pathogenicity Data:
- Best Score: 0.0135845
- REMM: 0.014
- Frequency Data:
- No frequency data
- Transcripts:
- PEX5:ENST00000675855.1::
- Pathogenicity Data:
- Best Score: 0.00143333
- REMM: 0.001
- Frequency Data:
- No frequency data
- Proximity score 0.502 in interactome to NR5A1 and phenotypic similarity 0.676 to 46,XX gonadal dysgenesis associated with NR5A1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0010311, Aplasia/Hypoplasia of the breasts
- HP:0006625, Multifocal breast carcinoma - HP:0010311, Aplasia/Hypoplasia of the breasts
- Known diseases:
- OMIM:125850 MODY, type I - autosomal dominant
- OMIM:125853 Diabetes mellitus, noninsulin-dependent (susceptibility)
- OMIM:616026 Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young - autosomal dominant
- ORPHA:552 MODY - autosomal dominant
AUTOSOMAL_DOMINANT
Exomiser Score: 0.099 (p=2.7E-1)
Phenotype Score: 0.502
Variant Score: 0.638
- Transcripts:
- HNF4A:ENST00000316673.9:c.50-1086_50-1085insG:p.(=)
- Pathogenicity Data:
- Best Score: 0.63815
- REMM: 0.638
- Frequency Data:
- No frequency data
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.004 (p=5.6E-1)
Phenotype Score: 0.251
Variant Score: 0.573
- Transcripts:
- HNF4A:ENST00000316673.9:c.50-1086_50-1085insG:p.(=)
- Pathogenicity Data:
- Best Score: 0.63815
- REMM: 0.638
- Frequency Data:
- No frequency data
- Transcripts:
- HNF4A:ENST00000316673.9:c.50-1110_50-1109del:p.(=)
- Pathogenicity Data:
- Best Score: 0.513069
- REMM: 0.513
- Frequency Data:
- gnomAD_G_AFR: 0.0172%
- gnomAD_G_AMR: 0.0469%
- gnomAD_G_NFE: 0.0041%
- gnomAD_G_SAS: 0.0805%
- Pathogenicity Data:
- Best Score: 0.463479
- REMM: 0.463
- Frequency Data:
- gnomAD_G_AFR: 0.0086%
- gnomAD_G_EAS: 0.0816%
- gnomAD_G_NFE: 0.0232%
- Pathogenicity Data:
- Best Score: 0.254565
- REMM: 0.255
- Frequency Data:
- gnomAD_G_AFR: 0.4301%
- gnomAD_G_AMR: 0.3106%
- gnomAD_G_EAS: 0.0196%
- gnomAD_G_NFE: 0.5522%
- gnomAD_G_SAS: 0.2104%
- Transcripts:
- HNF4A:ENST00000316673.9::
- Pathogenicity Data:
- Best Score: 0.208746
- REMM: 0.209
- Frequency Data:
- UK10K: 0.8199%
- gnomAD_G_AFR: 0.1180%
- gnomAD_G_AMR: 0.2879%
- gnomAD_G_EAS: 0.0387%
- gnomAD_G_NFE: 0.8896%
- gnomAD_G_SAS: 0.6661%
- Transcripts:
- HNF4A:ENST00000316673.9:c.50-1259_50-1258insC:p.(=)
- Pathogenicity Data:
- Best Score: 0.166382
- REMM: 0.166
- Frequency Data:
- No frequency data
- Transcripts:
- HNF4A:ENST00000316673.9::
- Pathogenicity Data:
- Best Score: 0.103592
- REMM: 0.104
- Frequency Data:
- No frequency data
- Transcripts:
- HNF4A:ENST00000316673.9::
- Pathogenicity Data:
- Best Score: 0.0798758
- REMM: 0.080
- Frequency Data:
- No frequency data
- Transcripts:
- HNF4A:ENST00000316673.9::
- Pathogenicity Data:
- Best Score: 0.0788464
- REMM: 0.079
- Frequency Data:
- No frequency data
- Transcripts:
- HNF4A:ENST00000316673.9:c.50-1233A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0777829
- REMM: 0.078
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.075044
- REMM: 0.075
- Frequency Data:
- No frequency data
- Transcripts:
- HNF4A:ENST00000316673.9::
- Pathogenicity Data:
- Best Score: 0.0490337
- REMM: 0.049
- Frequency Data:
- gnomAD_G_AFR: 0.1513%
- gnomAD_G_NFE: 0.0684%
- Transcripts:
- HNF4A:ENST00000316673.9:c.49+23878_49+23879del:p.(=)
- Pathogenicity Data:
- Best Score: 0.0438603
- REMM: 0.044
- Frequency Data:
- No frequency data
- Transcripts:
- HNF4A:ENST00000316673.9::
- Pathogenicity Data:
- Best Score: 0.044756
- REMM: 0.045
- Frequency Data:
- gnomAD_G_AFR: 0.1502%
- gnomAD_G_NFE: 0.0627%
- gnomAD_G_SAS: 0.5814%
- Pathogenicity Data:
- Best Score: 0.0274234
- REMM: 0.027
- Frequency Data:
- No frequency data
- Proximity score 0.501 in interactome to CCDC141 and phenotypic similarity 0.620 to Kallmann syndrome associated with CCDC141.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003187, Breast hypoplasia
- HP:0006625, Multifocal breast carcinoma - HP:0003187, Breast hypoplasia
- Known diseases:
- OMIM:602081 Speech-language disorder-1 - autosomal dominant
- ORPHA:209908 Isolated childhood apraxia of speech - autosomal dominant
AUTOSOMAL_DOMINANT
Exomiser Score: 0.091 (p=2.7E-1)
Phenotype Score: 0.501
Variant Score: 0.628
- Transcripts:
- FOXP2:ENST00000350908.9::
- Pathogenicity Data:
- Best Score: 0.628251
- REMM: 0.628
- Frequency Data:
- No frequency data
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.005 (p=5.5E-1)
Phenotype Score: 0.251
Variant Score: 0.584
- Transcripts:
- FOXP2:ENST00000350908.9::
- Pathogenicity Data:
- Best Score: 0.628251
- REMM: 0.628
- Frequency Data:
- No frequency data
- Transcripts:
- FOXP2:ENST00000350908.9:c.989+935G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.539017
- REMM: 0.539
- Frequency Data:
- No frequency data
- Transcripts:
- FOXP2:ENST00000350908.9:c.168+41040A>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.657957
- REMM: 0.658
- Frequency Data:
- gnomAD_G_AMR: 0.0327%
- gnomAD_G_NFE: 0.0103%
- gnomAD_G_SAS: 1.0356%
- Transcripts:
- FOXP2:ENST00000350908.9:c.259-40657C>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.492126
- REMM: 0.492
- Frequency Data:
- No frequency data
- Transcripts:
- FOXP2:ENST00000350908.9:c.258+21710C>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.930739
- REMM: 0.931
- Frequency Data:
- UK10K: 0.9786%
- gnomAD_G_AFR: 0.1540%
- gnomAD_G_AMR: 0.1046%
- gnomAD_G_NFE: 0.6955%
- gnomAD_G_SAS: 1.7041%
- Transcripts:
- FOXP2:ENST00000350908.9::
- Pathogenicity Data:
- Best Score: 0.0641349
- REMM: 0.064
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.00492222
- REMM: 0.005
- Frequency Data:
- No frequency data
- Transcripts:
- FOXP2:ENST00000350908.9:c.259-36107C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.00107143
- REMM: 0.001
- Frequency Data:
- No frequency data
- Transcripts:
- FOXP2:ENST00000350908.9:c.168+52379G>A:p.(=)
- Pathogenicity Data:
- Best Score: 4.92857E-4
- REMM: 0.000
- Frequency Data:
- UK10K: 0.7141%
- gnomAD_G_AFR: 0.1303%
- gnomAD_G_AMR: 0.0330%
- gnomAD_G_NFE: 0.4794%
- gnomAD_G_SAS: 1.6632%
- Phenotypic similarity 0.285 to mouse mutant involving SPTA1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0002397, abnormal bone marrow morphology
- HP:0006625, Multifocal breast carcinoma - MP:0002397, abnormal bone marrow morphology
- Proximity score 0.505 in interactome to SPTBN1 and phenotypic similarity 0.685 to Developmental delay, impaired speech, and behavioral abnormalities associated with SPTBN1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0032408, Breast mass
- HP:0006625, Multifocal breast carcinoma - HP:0032408, Breast mass
- Known diseases:
- OMIM:130600 Elliptocytosis-2 - autosomal dominant
- OMIM:266140 Pyropoikilocytosis - autosomal recessive
- OMIM:270970 Spherocytosis, type 3 - autosomal recessive
- ORPHA:288 Hereditary elliptocytosis - autosomal dominant
- ORPHA:822 Hereditary spherocytosis - autosomal recessive
AUTOSOMAL_DOMINANT
Exomiser Score: 0.087 (p=2.8E-1)
Phenotype Score: 0.505
Variant Score: 0.619
- Transcripts:
- SPTA1:ENST00000643759.2:c.3478-511G>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.619767
- REMM: 0.620
- Frequency Data:
- gnomAD_G_NFE: 0.0044%
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.080 (p=2.8E-1)
Phenotype Score: 0.505
Variant Score: 0.609
- Transcripts:
- SPTA1:ENST00000643759.2:c.3478-511G>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.619767
- REMM: 0.620
- Frequency Data:
- gnomAD_G_NFE: 0.0044%
- Transcripts:
- SPTA1:ENST00000643759.2:c.1403G>A:p.(Arg468His)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- gnomAD_E_AFR: 0.0120%
- gnomAD_E_NFE: 0.0013%
- gnomAD_E_SAS: 0.0012%
- gnomAD_G_AFR: 0.0241%
- gnomAD_G_AMR: 0.0065%
- gnomAD_G_EAS: 0.0192%
- gnomAD_G_SAS: 0.0207%
- Pathogenicity Data:
- Best Score: 0.4659
- REMM: 0.466
- Frequency Data:
- gnomAD_G_NFE: 0.0067%
- Pathogenicity Data:
- Best Score: 0.4659
- REMM: 0.466
- Frequency Data:
- gnomAD_G_AFR: 0.0040%
- gnomAD_G_NFE: 0.0666%
- Transcripts:
- SPTA1:ENST00000643759.2:c.3375+445T>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- UK10K: 0.0132%
- gnomAD_G_NFE: 0.0044%
- Phenotypic similarity 0.504 to Autosomal recessive Charcot-Marie-Tooth disease with hoarseness associated with GDAP1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0000765, Abnormal thorax morphology
- HP:0006625, Multifocal breast carcinoma - HP:0000765, Abnormal thorax morphology
- Proximity score 0.500 in interactome to SOX10 and phenotypic similarity 0.620 to Kallmann syndrome associated with SOX10.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003187, Breast hypoplasia
- HP:0006625, Multifocal breast carcinoma - HP:0003187, Breast hypoplasia
- Proximity score 0.500 in interactome to SOX10 and phenotypic similarity 0.310 to mouse mutant of SOX10.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0004493, dilated cochlea
- HP:0006625, Multifocal breast carcinoma - MP:0004493, dilated cochlea
- Proximity score 0.500 in interactome to SOX10 and phenotypic similarity 0.300 to fish mutant of SOX10.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - ZP:0018830, perichondrium disorganized, abnormal
- HP:0006625, Multifocal breast carcinoma - ZP:0018830, perichondrium disorganized, abnormal
- Known diseases:
- OMIM:214400 Charcot-Marie-Tooth disease, type 4A - autosomal recessive
- OMIM:607706 Charcot-Marie-Tooth disease, axonal, with vocal cord paresis - autosomal recessive
- OMIM:607831 Charcot-Marie-Tooth disease, axonal, type 2K - autosomal dominant/recessive
- OMIM:608340 Charcot-Marie-Tooth disease, recessive intermediate, A - autosomal recessive
- ORPHA:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness - autosomal recessive
- ORPHA:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness - autosomal dominant/recessive
- ORPHA:99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K - autosomal dominant/recessive
- ORPHA:99948 Charcot-Marie-Tooth disease type 4A - autosomal recessive
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.081 (p=2.8E-1)
Phenotype Score: 0.504
Variant Score: 0.611
- Phenotype matches to diseases consistent with this MOI:
- Phenotypic similarity 0.504 to ORPHA:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
- Transcripts:
- GDAP1:ENST00000220822.12:c.310+4222A>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.644388
- REMM: 0.644
- Frequency Data:
- UK10K: 0.0793%
- gnomAD_G_AFR: 0.0216%
- gnomAD_G_AMR: 0.0327%
- gnomAD_G_NFE: 0.1338%
- gnomAD_G_SAS: 0.1863%
- Transcripts:
- GDAP1:ENST00000220822.12:c.310+349A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.600985
- REMM: 0.601
- Frequency Data:
- UK10K: 0.0132%
- gnomAD_G_NFE: 0.0147%
- gnomAD_G_SAS: 0.0622%
AUTOSOMAL_DOMINANT
Exomiser Score: 0.071 (p=2.9E-1)
Phenotype Score: 0.504
Variant Score: 0.596
- Phenotype matches to diseases consistent with this MOI:
- Phenotypic similarity 0.504 to ORPHA:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
- Transcripts:
- GDAP1:ENST00000220822.12:c.310+349A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.600985
- REMM: 0.601
- Frequency Data:
- UK10K: 0.0132%
- gnomAD_G_NFE: 0.0147%
- gnomAD_G_SAS: 0.0622%
- Transcripts:
- GDAP1:ENST00000220822.12::
- Pathogenicity Data:
- Best Score: 0.551761
- REMM: 0.552
- Frequency Data:
- gnomAD_G_AFR: 0.0216%
- gnomAD_G_AMR: 0.0261%
- gnomAD_G_NFE: 0.1338%
- gnomAD_G_SAS: 0.1866%
- Transcripts:
- GDAP1:ENST00000220822.12::
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- UK10K: 0.0793%
- gnomAD_G_AFR: 0.0794%
- gnomAD_G_AMR: 0.0262%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 0.1073%
- gnomAD_G_SAS: 0.1244%
- Phenotypic similarity 0.319 to mouse mutant involving SLC3A1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0000063, decreased bone mineral density
- HP:0006625, Multifocal breast carcinoma - MP:0000063, decreased bone mineral density
- Proximity score 0.502 in interactome to POLD1 and phenotypic similarity 0.998 to Polymerase proofreading-related adenomatous polyposis associated with POLD1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003002, Breast carcinoma
- HP:0006625, Multifocal breast carcinoma - HP:0003002, Breast carcinoma
- Proximity score 0.502 in interactome to POLD1 and phenotypic similarity 0.260 to fish mutant of POLD1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - ZP:0001988, neurocranium decreased size, abnormal
- HP:0006625, Multifocal breast carcinoma - ZP:0001988, neurocranium decreased size, abnormal
- Known diseases:
- OMIM:220100 Cystinuria - autosomal dominant/recessive
- ORPHA:163690 Hypotonia-cystinuria syndrome (CNV)
- ORPHA:163693 2p21 microdeletion syndrome (CNV)
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.080 (p=2.8E-1)
Phenotype Score: 0.502
Variant Score: 0.612
- Pathogenicity Data:
- Best Score: 0.612454
- REMM: 0.612
- Frequency Data:
- No frequency data
AUTOSOMAL_DOMINANT
Exomiser Score: 0.003 (p=6.0E-1)
Phenotype Score: 0.502
Variant Score: 0.245
- Pathogenicity Data:
- Best Score: 0.245042
- REMM: 0.245
- Frequency Data:
- No frequency data
- Transcripts:
- SLC3A1:ENST00000260649.11:c.1332+1090del:p.(=)
- Pathogenicity Data:
- Best Score: 0.0673
- REMM: 0.067
- Frequency Data:
- No frequency data
- Transcripts:
- SLC3A1:ENST00000260649.11:c.1618-2104del:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- gnomAD_E_AFR: 1.3066%
- gnomAD_E_AMR: 0.0520%
- gnomAD_E_NFE: 0.0052%
- gnomAD_E_SAS: 0.0155%
- gnomAD_G_AFR: 0.2235%
- gnomAD_G_AMR: 0.0234%
- gnomAD_G_NFE: 0.0148%
- Phenotypic similarity 0.368 to mouse mutant involving NOTCH1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0000137, abnormal vertebrae morphology
- HP:0006625, Multifocal breast carcinoma - MP:0000137, abnormal vertebrae morphology
- Proximity score 0.515 in interactome to EBF3 and phenotypic similarity 0.643 to Hypotonia, ataxia, and delayed development syndrome associated with EBF3.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003186, Inverted nipples
- HP:0006625, Multifocal breast carcinoma - HP:0003186, Inverted nipples
- Known diseases:
- OMIM:109730 Aortic valve disease 1 - autosomal dominant
- OMIM:616028 Adams-Oliver syndrome 5 - autosomal dominant
- ORPHA:402075 Familial bicuspid aortic valve - autosomal dominant
- ORPHA:974 Adams-Oliver syndrome - autosomal dominant
AUTOSOMAL_DOMINANT
Exomiser Score: 0.080 (p=2.8E-1)
Phenotype Score: 0.515
Variant Score: 0.598
- Transcripts:
- NOTCH1:ENST00000651671.1:c.6376G>A:p.(Gly2126Arg)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- gnomAD_E_AFR: 0.0120%
- gnomAD_E_AMR: 0.0112%
- gnomAD_E_NFE: 0.0055%
- gnomAD_E_SAS: 0.0058%
- gnomAD_G_AFR: 0.0096%
- gnomAD_G_AMR: 0.0065%
- gnomAD_G_NFE: 0.0265%
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.004 (p=5.7E-1)
Phenotype Score: 0.257
Variant Score: 0.558
- Transcripts:
- NOTCH1:ENST00000651671.1:c.6376G>A:p.(Gly2126Arg)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- gnomAD_E_AFR: 0.0120%
- gnomAD_E_AMR: 0.0112%
- gnomAD_E_NFE: 0.0055%
- gnomAD_E_SAS: 0.0058%
- gnomAD_G_AFR: 0.0096%
- gnomAD_G_AMR: 0.0065%
- gnomAD_G_NFE: 0.0265%
- Pathogenicity Data:
- Best Score: 0.519118
- REMM: 0.519
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.453844
- REMM: 0.454
- Frequency Data:
- No frequency data
- Transcripts:
- NOTCH1:ENST00000651671.1:c.140+8292C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.428437
- REMM: 0.428
- Frequency Data:
- No frequency data
- Transcripts:
- NOTCH1:ENST00000651671.1::
- Pathogenicity Data:
- Best Score: 0.182463
- REMM: 0.182
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.30199
- REMM: 0.302
- Frequency Data:
- UK10K: 1.5472%
- Transcripts:
- NOTCH1:ENST00000651671.1:c.141-4438del:p.(=)
- Pathogenicity Data:
- Best Score: 0.0899714
- REMM: 0.090
- Frequency Data:
- No frequency data
- Transcripts:
- NOTCH1:ENST00000651671.1:c.140+9124A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.027521
- REMM: 0.028
- Frequency Data:
- No frequency data
- Transcripts:
- NOTCH1:ENST00000651671.1:c.140+9111C>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0159266
- REMM: 0.016
- Frequency Data:
- No frequency data
- Transcripts:
- NOTCH1:ENST00000651671.1:c.2970-245C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- UK10K: 0.6876%
- gnomAD_G_AFR: 0.1252%
- gnomAD_G_AMR: 0.5620%
- gnomAD_G_NFE: 0.7247%
- gnomAD_G_SAS: 0.3524%
- Phenotypic similarity 0.444 to GLOW syndrome, somatic mosaic associated with DICER1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0000767, Pectus excavatum
- HP:0006625, Multifocal breast carcinoma - HP:0000767, Pectus excavatum
- Phenotypic similarity 0.284 to zebrafish mutant involving DICER1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - ZP:0003089, splanchnocranium morphology, abnormal
- HP:0006625, Multifocal breast carcinoma - ZP:0003089, splanchnocranium morphology, abnormal
- Proximity score 0.505 in interactome to RAD51C and phenotypic similarity 0.998 to Hereditary breast and/or ovarian cancer syndrome associated with RAD51C.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003002, Breast carcinoma
- HP:0006625, Multifocal breast carcinoma - HP:0003002, Breast carcinoma
- Known diseases:
- OMIM:138800 Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors - autosomal dominant
- OMIM:180295 Rhabdomyosarcoma, embryonal, 2 - unknown
- OMIM:601200 Pleuropulmonary blastoma - autosomal dominant
- OMIM:618272 GLOW syndrome, somatic mosaic - somatic
- ORPHA:276399 Familial multinodular goiter (susceptibility)
AUTOSOMAL_DOMINANT
Exomiser Score: 0.079 (p=2.8E-1)
Phenotype Score: 0.505
Variant Score: 0.608
- Transcripts:
- DICER1:ENST00000343455.8:c.904-902T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.608725
- REMM: 0.609
- Frequency Data:
- gnomAD_G_NFE: 0.0031%
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.003 (p=6.2E-1)
Phenotype Score: 0.252
Variant Score: 0.514
- Transcripts:
- DICER1:ENST00000343455.8:c.904-902T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.608725
- REMM: 0.609
- Frequency Data:
- gnomAD_G_NFE: 0.0031%
- Pathogenicity Data:
- Best Score: 0.420096
- REMM: 0.420
- Frequency Data:
- No frequency data
- Transcripts:
- DICER1:ENST00000343455.8:c.-46+10003C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.411554
- REMM: 0.412
- Frequency Data:
- No frequency data
- Transcripts:
- DICER1:ENST00000343455.8:c.904-839_904-838del:p.(=)
- Pathogenicity Data:
- Best Score: 0.0144052
- REMM: 0.014
- Frequency Data:
- gnomAD_G_AFR: 0.0336%
- gnomAD_G_AMR: 0.4148%
- gnomAD_G_NFE: 0.1956%
- gnomAD_G_SAS: 0.9239%
- Transcripts:
- DICER1:ENST00000343455.8:c.*2050G>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.0022
- REMM: 0.002
- Frequency Data:
- UK10K: 0.1851%
- gnomAD_E_AFR: 0.0788%
- gnomAD_E_AMR: 0.4870%
- gnomAD_E_NFE: 0.3283%
- gnomAD_E_SAS: 1.0057%
- gnomAD_G_AFR: 0.0505%
- gnomAD_G_AMR: 0.7192%
- gnomAD_G_NFE: 0.2249%
- gnomAD_G_SAS: 1.2225%
- Phenotypic similarity 0.569 to Fraser syndrome associated with FREM2.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0006610, Wide intermamillary distance
- HP:0006625, Multifocal breast carcinoma - HP:0006610, Wide intermamillary distance
- Phenotypic similarity 0.319 to mouse mutant involving FREM2.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0003104, acrania
- HP:0006625, Multifocal breast carcinoma - MP:0003104, acrania
- Known diseases:
- OMIM:123570 Cryptophthalmos, unilateral or bilateral, isolated - autosomal recessive
- OMIM:617666 Fraser syndrome 2 - autosomal recessive
- ORPHA:2052 Fraser syndrome - autosomal recessive
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.077 (p=2.9E-1)
Phenotype Score: 0.569
Variant Score: 0.532
- Phenotype matches to diseases consistent with this MOI:
- Phenotypic similarity 0.569 to ORPHA:2052 Fraser syndrome
- Phenotypic similarity 0.548 to OMIM:617666 Fraser syndrome 2
- Transcripts:
- FREM2:ENST00000280481.9:c.5263+17793A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.566789
- REMM: 0.567
- Frequency Data:
- gnomAD_G_NFE: 0.0250%
- gnomAD_G_SAS: 0.1456%
- Transcripts:
- FREM2:ENST00000280481.9:c.5264-7779del:p.(=)
- Pathogenicity Data:
- Best Score: 0.510211
- REMM: 0.510
- Frequency Data:
- No frequency data
AUTOSOMAL_DOMINANT
Exomiser Score: 0.001 (p=7.2E-1)
Phenotype Score: 0.159
Variant Score: 0.510
- Transcripts:
- FREM2:ENST00000280481.9:c.5264-7779del:p.(=)
- Pathogenicity Data:
- Best Score: 0.510211
- REMM: 0.510
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.52734
- REMM: 0.527
- Frequency Data:
- No frequency data
- Transcripts:
- FREM2:ENST00000280481.9:c.5264-25738del:p.(=)
- Pathogenicity Data:
- Best Score: 0.459544
- REMM: 0.460
- Frequency Data:
- No frequency data
- Transcripts:
- FREM2:ENST00000280481.9:c.7216-295G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.449878
- REMM: 0.450
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.417694
- REMM: 0.418
- Frequency Data:
- No frequency data
- Transcripts:
- FREM2:ENST00000280481.9:c.6020-24322G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.398153
- REMM: 0.398
- Frequency Data:
- UK10K: 0.1322%
- gnomAD_G_AFR: 0.0410%
- gnomAD_G_AMR: 0.1640%
- gnomAD_G_NFE: 0.1751%
- gnomAD_G_SAS: 0.1249%
- Transcripts:
- FREM2:ENST00000280481.9::
- Pathogenicity Data:
- Best Score: 0.63004
- REMM: 0.630
- Frequency Data:
- UK10K: 0.0661%
- gnomAD_G_AFR: 0.0168%
- gnomAD_G_AMR: 0.2221%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 0.1176%
- gnomAD_G_SAS: 1.5554%
- Transcripts:
- FREM2:ENST00000280481.9:c.5263+14246G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.304135
- REMM: 0.304
- Frequency Data:
- gnomAD_G_AFR: 0.0102%
- gnomAD_G_AMR: 0.0421%
- gnomAD_G_NFE: 0.0784%
- gnomAD_G_SAS: 0.1689%
- Transcripts:
- FREM2:ENST00000280481.9:c.6019+25363G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.146054
- REMM: 0.146
- Frequency Data:
- UK10K: 0.1058%
- gnomAD_G_AFR: 0.0410%
- gnomAD_G_AMR: 0.1639%
- gnomAD_G_NFE: 0.1796%
- gnomAD_G_SAS: 0.1040%
- Pathogenicity Data:
- Best Score: 0.308427
- REMM: 0.308
- Frequency Data:
- gnomAD_G_AFR: 0.0459%
- gnomAD_G_AMR: 0.2931%
- gnomAD_G_EAS: 0.1221%
- gnomAD_G_NFE: 0.2155%
- gnomAD_G_SAS: 1.6459%
- Pathogenicity Data:
- Best Score: 0.096077
- REMM: 0.096
- Frequency Data:
- No frequency data
- Transcripts:
- FREM2:ENST00000280481.9::
- Pathogenicity Data:
- Best Score: 0.0460353
- REMM: 0.046
- Frequency Data:
- gnomAD_G_AFR: 0.0024%
- gnomAD_G_AMR: 0.0392%
- gnomAD_G_NFE: 0.0132%
- Pathogenicity Data:
- Best Score: 0.0674175
- REMM: 0.067
- Frequency Data:
- gnomAD_G_AFR: 1.4306%
- gnomAD_G_AMR: 0.0357%
- gnomAD_G_EAS: 0.1603%
- gnomAD_G_NFE: 0.0126%
- Transcripts:
- FREM2:ENST00000280481.9:c.7983+1571T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- UK10K: 0.4893%
- gnomAD_G_AFR: 0.0987%
- gnomAD_G_AMR: 0.6933%
- gnomAD_G_NFE: 0.8280%
- gnomAD_G_SAS: 0.2281%
- Transcripts:
- FREM2:ENST00000280481.9::
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- gnomAD_G_NFE: 0.0044%
- Phenotypic similarity 0.264 to mouse mutant involving SPTBN2.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0002764, short tibia
- HP:0006625, Multifocal breast carcinoma - MP:0002764, short tibia
- Proximity score 0.505 in interactome to SPTBN1 and phenotypic similarity 0.685 to Developmental delay, impaired speech, and behavioral abnormalities associated with SPTBN1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0032408, Breast mass
- HP:0006625, Multifocal breast carcinoma - HP:0032408, Breast mass
- Known diseases:
- OMIM:600224 Spinocerebellar ataxia 5 - autosomal dominant
- OMIM:615386 Spinocerebellar ataxia, autosomal recessive 14 - autosomal recessive
- ORPHA:352403 Spectrin-associated autosomal recessive cerebellar ataxia - autosomal recessive
- ORPHA:98766 Spinocerebellar ataxia type 5 - autosomal dominant
AUTOSOMAL_DOMINANT
Exomiser Score: 0.073 (p=2.9E-1)
Phenotype Score: 0.505
Variant Score: 0.598
- Transcripts:
- SPTBN2:ENST00000533211.6:c.5939C>A:p.(Ala1980Glu)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- gnomAD_E_NFE: 0.0012%
- gnomAD_E_SAS: 0.0058%
- gnomAD_G_NFE: 0.0029%
- gnomAD_G_SAS: 0.0207%
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.007 (p=5.1E-1)
Phenotype Score: 0.505
Variant Score: 0.338
- Transcripts:
- SPTBN2:ENST00000533211.6:c.5939C>A:p.(Ala1980Glu)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- gnomAD_E_NFE: 0.0012%
- gnomAD_E_SAS: 0.0058%
- gnomAD_G_NFE: 0.0029%
- gnomAD_G_SAS: 0.0207%
- Transcripts:
- SPTBN2:ENST00000533211.6:c.-113-1136del:p.(=)
- Pathogenicity Data:
- Best Score: 0.0777317
- REMM: 0.078
- Frequency Data:
- No frequency data
- Transcripts:
- SPTBN2:ENST00000533211.6:c.2678+625del:p.(=)
- Pathogenicity Data:
- Best Score: 0.0151956
- REMM: 0.015
- Frequency Data:
- No frequency data
- Transcripts:
- SPTBN2:ENST00000533211.6:c.4014+579A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.003425
- REMM: 0.003
- Frequency Data:
- gnomAD_G_NFE: 0.0029%
- gnomAD_G_SAS: 0.0207%
- Proximity score 0.505 in interactome to NR0B1 and phenotypic similarity 0.614 to 46,XY partial gonadal dysgenesis associated with NR0B1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0000771, Gynecomastia
- HP:0006625, Multifocal breast carcinoma - HP:0000771, Gynecomastia
- Proximity score 0.505 in interactome to NR0B1 and phenotypic similarity 0.321 to mouse mutant of NR0B1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0010123, increased bone mineral content
- HP:0006625, Multifocal breast carcinoma - MP:0010123, increased bone mineral content
- Known diseases:
- OMIM:618270 ?Congenital anomalies of kidney and urinary tract 3 (unconfirmed)
AUTOSOMAL_DOMINANT
Exomiser Score: 0.073 (p=2.9E-1)
Phenotype Score: 0.505
Variant Score: 0.599
- Transcripts:
- NRIP1:ENST00000318948.7:c.616G>A:p.(Val206Met)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- gnomAD_E_AFR: 0.0030%
- gnomAD_E_AMR: 0.0179%
- gnomAD_E_NFE: 0.0052%
- gnomAD_E_SAS: 0.0046%
- gnomAD_G_AFR: 0.0048%
- gnomAD_G_AMR: 0.0131%
- gnomAD_G_NFE: 0.0059%
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.001 (p=7.7E-1)
Phenotype Score: 0.252
Variant Score: 0.354
- Transcripts:
- NRIP1:ENST00000318948.7:c.616G>A:p.(Val206Met)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- gnomAD_E_AFR: 0.0030%
- gnomAD_E_AMR: 0.0179%
- gnomAD_E_NFE: 0.0052%
- gnomAD_E_SAS: 0.0046%
- gnomAD_G_AFR: 0.0048%
- gnomAD_G_AMR: 0.0131%
- gnomAD_G_NFE: 0.0059%
- Transcripts:
- NRIP1:ENST00000318948.7:c.-537-7516C>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.110337
- REMM: 0.110
- Frequency Data:
- No frequency data
- Transcripts:
- NRIP1:ENST00000318948.7:c.-457-2537T>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.00297222
- REMM: 0.003
- Frequency Data:
- UK10K: 0.0132%
- gnomAD_G_AFR: 0.0121%
- gnomAD_G_AMR: 0.1308%
- gnomAD_G_EAS: 0.0386%
- gnomAD_G_NFE: 0.0515%
- gnomAD_G_SAS: 0.2698%
- Transcripts:
- NRIP1:ENST00000318948.7:c.-457-9646C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- No frequency data
- Proximity score 0.504 in interactome to CASP10 and phenotypic similarity 0.876 to Autoimmune lymphoproliferative syndrome associated with CASP10.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0010619, Fibroadenoma of the breast
- HP:0006625, Multifocal breast carcinoma - HP:0010619, Fibroadenoma of the breast
AUTOSOMAL_DOMINANT
Exomiser Score: 0.073 (p=2.9E-1)
Phenotype Score: 0.504
Variant Score: 0.599
- Transcripts:
- TRADD:ENST00000345057.9:c.371G>C:p.(Arg124Pro)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- gnomAD_E_AMR: 0.0022%
- gnomAD_E_NFE: 0.0141%
- gnomAD_E_SAS: 0.0058%
- gnomAD_G_AFR: 0.0024%
- gnomAD_G_AMR: 0.0065%
- gnomAD_G_NFE: 0.0147%
- Phenotypic similarity 0.223 to mouse mutant involving TMPO.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0003135, increased erythroid progenitor cell number
- HP:0006625, Multifocal breast carcinoma - MP:0003135, increased erythroid progenitor cell number
- Proximity score 0.502 in interactome to RNF43 and phenotypic similarity 0.998 to Serrated polyposis syndrome associated with RNF43.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003002, Breast carcinoma
- HP:0006625, Multifocal breast carcinoma - HP:0003002, Breast carcinoma
- Proximity score 0.502 in interactome to RNF43 and phenotypic similarity 0.264 to mouse mutant of RNF43.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0002764, short tibia
- HP:0006625, Multifocal breast carcinoma - MP:0002764, short tibia
- Known diseases:
- ORPHA:154 Familial isolated dilated cardiomyopathy - autosomal dominant/recessive
AUTOSOMAL_DOMINANT
Exomiser Score: 0.072 (p=2.9E-1)
Phenotype Score: 0.502
Variant Score: 0.600
- Transcripts:
- TMPO:ENST00000556029.6:c.479C>T:p.(Thr160Ile)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- gnomAD_E_NFE: 0.0002%
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.036 (p=3.5E-1)
Phenotype Score: 0.502
Variant Score: 0.519
- Transcripts:
- TMPO:ENST00000556029.6:c.479C>T:p.(Thr160Ile)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- gnomAD_E_NFE: 0.0002%
- Transcripts:
- TMPO:ENST00000556029.6:c.279+4514G>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.446017
- REMM: 0.446
- Frequency Data:
- gnomAD_G_AFR: 0.0025%
- gnomAD_G_AMR: 0.1218%
- gnomAD_G_NFE: 0.0518%
- gnomAD_G_SAS: 0.0846%
- Transcripts:
- TMPO:ENST00000556029.6:c.279+4130T>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.234623
- REMM: 0.235
- Frequency Data:
- No frequency data
- Transcripts:
- TMPO:ENST00000556029.6::
- Pathogenicity Data:
- Best Score: 0.177679
- REMM: 0.178
- Frequency Data:
- No frequency data
- Transcripts:
- TMPO:ENST00000556029.6::
- Pathogenicity Data:
- Best Score: 0.0890472
- REMM: 0.089
- Frequency Data:
- No frequency data
- Transcripts:
- TMPO:ENST00000556029.6::
- Pathogenicity Data:
- Best Score: 0.0890472
- REMM: 0.089
- Frequency Data:
- No frequency data
- Proximity score 0.503 in interactome to TERT and phenotypic similarity 0.950 to Familial melanoma associated with TERT.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0100013, Neoplasm of the breast
- HP:0006625, Multifocal breast carcinoma - HP:0100013, Neoplasm of the breast
- Proximity score 0.503 in interactome to TERT and phenotypic similarity 0.357 to mouse mutant of TERT.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0003345, decreased rib number
- HP:0006625, Multifocal breast carcinoma - MP:0003345, decreased rib number
AUTOSOMAL_DOMINANT
Exomiser Score: 0.072 (p=2.9E-1)
Phenotype Score: 0.503
Variant Score: 0.599
- Transcripts:
- TEP1:ENST00000262715.10:c.6847G>A:p.(Val2283Ile)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- gnomAD_E_AFR: 0.0030%
- gnomAD_E_AMR: 0.0045%
- gnomAD_E_EAS: 0.0076%
- gnomAD_E_NFE: 0.0005%
- gnomAD_E_SAS: 0.0023%
- gnomAD_G_AFR: 0.0072%
- gnomAD_G_NFE: 0.0015%
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.010 (p=4.7E-1)
Phenotype Score: 0.503
Variant Score: 0.378
- Transcripts:
- TEP1:ENST00000262715.10:c.6847G>A:p.(Val2283Ile)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- gnomAD_E_AFR: 0.0030%
- gnomAD_E_AMR: 0.0045%
- gnomAD_E_EAS: 0.0076%
- gnomAD_E_NFE: 0.0005%
- gnomAD_E_SAS: 0.0023%
- gnomAD_G_AFR: 0.0072%
- gnomAD_G_NFE: 0.0015%
- Transcripts:
- TEP1:ENST00000262715.10:c.-24-1575_-24-1558del:p.(=)
- Pathogenicity Data:
- Best Score: 0.156991
- REMM: 0.157
- Frequency Data:
- No frequency data
- Transcripts:
- TEP1:ENST00000262715.10:c.2142G>C:p.(=)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- gnomAD_E_EAS: 0.0025%
- gnomAD_E_NFE: 0.0001%
- gnomAD_E_SAS: 0.0012%
- Transcripts:
- TEP1:ENST00000262715.10:c.2684+228G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.005
- REMM: 0.005
- Frequency Data:
- UK10K: 0.0926%
- gnomAD_G_AFR: 0.0048%
- gnomAD_G_AMR: 0.0588%
- gnomAD_G_NFE: 0.1102%
- gnomAD_G_SAS: 1.0563%
- Transcripts:
- TEP1:ENST00000262715.10::
- Pathogenicity Data:
- Best Score: 0.002975
- REMM: 0.003
- Frequency Data:
- No frequency data
- Proximity score 0.502 in interactome to BAP1 and phenotypic similarity 0.950 to Familial melanoma associated with BAP1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0100013, Neoplasm of the breast
- HP:0006625, Multifocal breast carcinoma - HP:0100013, Neoplasm of the breast
- Proximity score 0.502 in interactome to BAP1 and phenotypic similarity 0.304 to mouse mutant of BAP1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0003795, abnormal bone structure
- HP:0006625, Multifocal breast carcinoma - MP:0003795, abnormal bone structure
- Proximity score 0.502 in interactome to BAP1 and phenotypic similarity 0.294 to fish mutant of BAP1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - ZP:0003356, notochord malformed, abnormal
- HP:0006625, Multifocal breast carcinoma - ZP:0003356, notochord malformed, abnormal
AUTOSOMAL_DOMINANT
Exomiser Score: 0.071 (p=2.9E-1)
Phenotype Score: 0.502
Variant Score: 0.599
- Transcripts:
- IPO4:ENST00000354464.11:c.2302G>A:p.(Val768Met)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- UK10K: 0.0132%
- gnomAD_E_AFR: 0.0030%
- gnomAD_E_NFE: 0.0020%
- Phenotypic similarity 0.230 to zebrafish mutant involving ERBB3.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - ZP:0106560, axon scale decreased amount, abnormal
- HP:0006625, Multifocal breast carcinoma - ZP:0106560, axon scale decreased amount, abnormal
- Proximity score 0.503 in interactome to SOX10 and phenotypic similarity 0.620 to Kallmann syndrome associated with SOX10.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003187, Breast hypoplasia
- HP:0006625, Multifocal breast carcinoma - HP:0003187, Breast hypoplasia
- Proximity score 0.503 in interactome to SOX10 and phenotypic similarity 0.310 to mouse mutant of SOX10.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0004493, dilated cochlea
- HP:0006625, Multifocal breast carcinoma - MP:0004493, dilated cochlea
- Proximity score 0.503 in interactome to SOX10 and phenotypic similarity 0.300 to fish mutant of SOX10.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - ZP:0018830, perichondrium disorganized, abnormal
- HP:0006625, Multifocal breast carcinoma - ZP:0018830, perichondrium disorganized, abnormal
- Known diseases:
- OMIM:133180 ?Erythroleukemia, familial, susceptibility to (susceptibility)
- OMIM:243180 Visceral neuropathy, familial, 1, autosomal recessive - autosomal recessive
- OMIM:607598 ?Lethal congenital contractural syndrome 2 (unconfirmed)
- ORPHA:388 Hirschsprung disease - autosomal dominant/recessive
AUTOSOMAL_DOMINANT
Exomiser Score: 0.071 (p=2.9E-1)
Phenotype Score: 0.503
Variant Score: 0.598
- Transcripts:
- ERBB3:ENST00000267101.8:c.2241G>C:p.(Lys747Asn)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- UK10K: 0.0264%
- gnomAD_E_AFR: 0.0060%
- gnomAD_E_AMR: 0.0022%
- gnomAD_E_NFE: 0.0059%
- gnomAD_E_SAS: 0.0046%
- gnomAD_G_NFE: 0.0103%
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.025 (p=3.8E-1)
Phenotype Score: 0.503
Variant Score: 0.477
- Transcripts:
- ERBB3:ENST00000267101.8:c.2241G>C:p.(Lys747Asn)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- UK10K: 0.0264%
- gnomAD_E_AFR: 0.0060%
- gnomAD_E_AMR: 0.0022%
- gnomAD_E_NFE: 0.0059%
- gnomAD_E_SAS: 0.0046%
- gnomAD_G_NFE: 0.0103%
- Transcripts:
- ERBB3:ENST00000267101.8::
- Pathogenicity Data:
- Best Score: 0.356021
- REMM: 0.356
- Frequency Data:
- No frequency data
- Transcripts:
- ERBB3:ENST00000267101.8::
- Pathogenicity Data:
- Best Score: 0.154508
- REMM: 0.155
- Frequency Data:
- No frequency data
- Transcripts:
- ERBB3:ENST00000267101.8::
- Pathogenicity Data:
- Best Score: 0.132299
- REMM: 0.132
- Frequency Data:
- No frequency data
- Transcripts:
- ERBB3:ENST00000267101.8::
- Pathogenicity Data:
- Best Score: 0.132299
- REMM: 0.132
- Frequency Data:
- No frequency data
- Transcripts:
- ERBB3:ENST00000267101.8:c.1110-357del:p.(=)
- Pathogenicity Data:
- Best Score: 0.124333
- REMM: 0.124
- Frequency Data:
- No frequency data
- Transcripts:
- ERBB3:ENST00000267101.8:c.1110-357_1110-356del:p.(=)
- Pathogenicity Data:
- Best Score: 0.124333
- REMM: 0.124
- Frequency Data:
- No frequency data
- Transcripts:
- ERBB3:ENST00000267101.8::
- Pathogenicity Data:
- Best Score: 0.122999
- REMM: 0.123
- Frequency Data:
- No frequency data
- Phenotypic similarity 0.237 to mouse mutant involving NOD2.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0003436, decreased susceptibility to induced arthritis
- HP:0006625, Multifocal breast carcinoma - MP:0003436, decreased susceptibility to induced arthritis
- Proximity score 0.501 in interactome to IKBKG and phenotypic similarity 0.619 to Incontinentia pigmenti associated with IKBKG.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0100783, Breast aplasia
- HP:0006625, Multifocal breast carcinoma - HP:0100783, Breast aplasia
- Proximity score 0.501 in interactome to IKBKG and phenotypic similarity 0.275 to mouse mutant of IKBKG.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0002398, abnormal bone marrow cell morphology/development
- HP:0006625, Multifocal breast carcinoma - MP:0002398, abnormal bone marrow cell morphology/development
- Known diseases:
- OMIM:186580 Blau syndrome - autosomal dominant
- OMIM:266600 Inflammatory bowel disease 1, Crohn disease (susceptibility)
- OMIM:617321 Yao syndrome (susceptibility)
- ORPHA:90340 Blau syndrome - autosomal dominant
AUTOSOMAL_DOMINANT
Exomiser Score: 0.071 (p=2.9E-1)
Phenotype Score: 0.501
Variant Score: 0.599
- Transcripts:
- NOD2:ENST00000647318.2:c.403G>A:p.(Val135Ile)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- gnomAD_E_AMR: 0.0067%
- gnomAD_E_EAS: 0.0025%
- gnomAD_E_NFE: 0.0094%
- gnomAD_G_NFE: 0.0132%
- Proximity score 0.504 in interactome to PNPLA6 and phenotypic similarity 0.613 to Cerebellar ataxia-hypogonadism syndrome associated with PNPLA6.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0000771, Gynecomastia
- HP:0006625, Multifocal breast carcinoma - HP:0000771, Gynecomastia
AUTOSOMAL_DOMINANT
Exomiser Score: 0.070 (p=2.9E-1)
Phenotype Score: 0.504
Variant Score: 0.595
- Transcripts:
- PLA2G4D:ENST00000290472.4:c.1507G>A:p.(Gly503Ser)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- UK10K: 0.0529%
- gnomAD_E_AFR: 0.0090%
- gnomAD_E_AMR: 0.0134%
- gnomAD_E_EAS: 0.0076%
- gnomAD_E_NFE: 0.0506%
- gnomAD_E_SAS: 0.0058%
- gnomAD_G_AFR: 0.0048%
- gnomAD_G_AMR: 0.0196%
- gnomAD_G_NFE: 0.0544%
- gnomAD_G_SAS: 0.0207%
- Phenotypic similarity 0.535 to D-bifunctional protein deficiency associated with HSD17B4.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0005257, Thoracic hypoplasia
- HP:0006625, Multifocal breast carcinoma - HP:0005257, Thoracic hypoplasia
- Phenotypic similarity 0.345 to mouse mutant involving HSD17B4.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0000157, abnormal sternum morphology
- HP:0006625, Multifocal breast carcinoma - MP:0000157, abnormal sternum morphology
- Proximity score 0.504 in interactome to HSD17B3 and phenotypic similarity 0.614 to Pseudohermaphroditism, male, with gynecomastia associated with HSD17B3.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0000771, Gynecomastia
- HP:0006625, Multifocal breast carcinoma - HP:0000771, Gynecomastia
- Known diseases:
- OMIM:233400 Perrault syndrome 1 - autosomal recessive
- OMIM:261515 D-bifunctional protein deficiency - autosomal recessive
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.070 (p=3.0E-1)
Phenotype Score: 0.535
Variant Score: 0.560
- Phenotype matches to diseases consistent with this MOI:
- Phenotypic similarity 0.535 to OMIM:261515 D-bifunctional protein deficiency
- Transcripts:
- HSD17B4:ENST00000510025.7:c.11C>G:p.(Pro4Arg)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- gnomAD_E_AFR: 0.0030%
- gnomAD_E_AMR: 0.0045%
- gnomAD_E_NFE: 0.0332%
- gnomAD_E_SAS: 0.0499%
- gnomAD_G_NFE: 0.0353%
- gnomAD_G_SAS: 0.0414%
- Transcripts:
- HSD17B4:ENST00000510025.7:c.1504-916A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.524117
- REMM: 0.524
- Frequency Data:
- gnomAD_G_NFE: 0.0044%
AUTOSOMAL_DOMINANT
Exomiser Score: 0.006 (p=5.4E-1)
Phenotype Score: 0.252
Variant Score: 0.596
- Transcripts:
- HSD17B4:ENST00000510025.7:c.11C>G:p.(Pro4Arg)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- gnomAD_E_AFR: 0.0030%
- gnomAD_E_AMR: 0.0045%
- gnomAD_E_NFE: 0.0332%
- gnomAD_E_SAS: 0.0499%
- gnomAD_G_NFE: 0.0353%
- gnomAD_G_SAS: 0.0414%
- Pathogenicity Data:
- Best Score: 0.454609
- REMM: 0.455
- Frequency Data:
- No frequency data
- Transcripts:
- HSD17B4:ENST00000510025.7::
- Pathogenicity Data:
- Best Score: 0.386856
- REMM: 0.387
- Frequency Data:
- UK10K: 0.0132%
- gnomAD_G_AFR: 0.0048%
- gnomAD_G_NFE: 0.0632%
- gnomAD_G_SAS: 0.1242%
- Transcripts:
- HSD17B4:ENST00000510025.7:c.113-644T>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.351564
- REMM: 0.352
- Frequency Data:
- No frequency data
- Transcripts:
- HSD17B4:ENST00000510025.7:c.623-1753A>G:p.(=)
- Pathogenicity Data:
- Best Score: 2.85714E-4
- REMM: 0.000
- Frequency Data:
- UK10K: 0.0132%
- gnomAD_G_AFR: 0.0048%
- gnomAD_G_AMR: 0.0066%
- gnomAD_G_NFE: 0.0412%
- gnomAD_G_SAS: 0.0414%
- Transcripts:
- HSD17B4:ENST00000510025.7:c.739+460G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- gnomAD_E_AMR: 0.0536%
- gnomAD_G_AFR: 0.0048%
- gnomAD_G_AMR: 0.0131%
- gnomAD_G_EAS: 0.0386%
- gnomAD_G_NFE: 0.0029%
- Phenotypic similarity 0.471 to Townes-Brocks syndrome associated with DACT1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0000772, Abnormal rib morphology
- HP:0006625, Multifocal breast carcinoma - HP:0000772, Abnormal rib morphology
- Phenotypic similarity 0.360 to mouse mutant involving DACT1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0000137, abnormal vertebrae morphology
- HP:0006625, Multifocal breast carcinoma - MP:0000137, abnormal vertebrae morphology
- Proximity score 0.504 in interactome to APC and phenotypic similarity 0.998 to Gardner syndrome associated with APC.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003002, Breast carcinoma
- HP:0006625, Multifocal breast carcinoma - HP:0003002, Breast carcinoma
- Proximity score 0.504 in interactome to APC and phenotypic similarity 0.315 to mouse mutant of APC.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0004713, split notochord
- HP:0006625, Multifocal breast carcinoma - MP:0004713, split notochord
- Proximity score 0.504 in interactome to APC and phenotypic similarity 0.228 to fish mutant of APC.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - ZP:0003761, mandibular arch skeleton immature, abnormal
- HP:0006625, Multifocal breast carcinoma - ZP:0003761, mandibular arch skeleton immature, abnormal
- Known diseases:
- OMIM:617466 Townes-Brocks syndrome 2 - autosomal dominant
- ORPHA:857 Townes-Brocks syndrome - autosomal dominant
AUTOSOMAL_DOMINANT
Exomiser Score: 0.069 (p=3.0E-1)
Phenotype Score: 0.504
Variant Score: 0.593
- Phenotype matches to diseases consistent with this MOI:
- Phenotypic similarity 0.471 to ORPHA:857 Townes-Brocks syndrome
- Transcripts:
- DACT1:ENST00000395153.8:c.133C>T:p.(Arg45Trp)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- gnomAD_E_NFE: 0.0020%
- gnomAD_E_SAS: 0.0267%
- gnomAD_G_NFE: 0.0015%
- gnomAD_G_SAS: 0.0828%
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.004 (p=5.7E-1)
Phenotype Score: 0.252
Variant Score: 0.564
- Transcripts:
- DACT1:ENST00000395153.8:c.133C>T:p.(Arg45Trp)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- gnomAD_E_NFE: 0.0020%
- gnomAD_E_SAS: 0.0267%
- gnomAD_G_NFE: 0.0015%
- gnomAD_G_SAS: 0.0828%
- Transcripts:
- DACT1:ENST00000395153.8::
- Pathogenicity Data:
- Best Score: 0.535859
- REMM: 0.536
- Frequency Data:
- No frequency data
- Transcripts:
- DACT1:ENST00000395153.8::
- Pathogenicity Data:
- Best Score: 0.535859
- REMM: 0.536
- Frequency Data:
- No frequency data
- Transcripts:
- DACT1:ENST00000395153.8::
- Pathogenicity Data:
- Best Score: 0.232618
- REMM: 0.233
- Frequency Data:
- No frequency data
- Transcripts:
- DACT1:ENST00000395153.8::
- Pathogenicity Data:
- Best Score: 0.0390802
- REMM: 0.039
- Frequency Data:
- No frequency data
- Transcripts:
- DACT1:ENST00000395153.8::
- Pathogenicity Data:
- Best Score: 0.00512143
- REMM: 0.005
- Frequency Data:
- UK10K: 0.3703%
- gnomAD_G_AFR: 0.1155%
- gnomAD_G_AMR: 0.6404%
- gnomAD_G_NFE: 0.4294%
- gnomAD_G_SAS: 0.0623%
- Proximity score 0.501 in interactome to RBM28 and phenotypic similarity 0.614 to ?Alopecia, neurologic defects, and endocrinopathy syndrome associated with RBM28.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0000771, Gynecomastia
- HP:0006625, Multifocal breast carcinoma - HP:0000771, Gynecomastia
AUTOSOMAL_DOMINANT
Exomiser Score: 0.068 (p=3.0E-1)
Phenotype Score: 0.501
Variant Score: 0.595
- Transcripts:
- PNO1:ENST00000263657.7:c.295A>G:p.(Ile99Val)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- UK10K: 0.0264%
- gnomAD_E_AMR: 0.0089%
- gnomAD_E_EAS: 0.0630%
- gnomAD_E_NFE: 0.0242%
- gnomAD_E_SAS: 0.0139%
- gnomAD_G_AFR: 0.0072%
- gnomAD_G_AMR: 0.0065%
- gnomAD_G_EAS: 0.0385%
- gnomAD_G_NFE: 0.0147%
- gnomAD_G_SAS: 0.0207%
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.005 (p=5.5E-1)
Phenotype Score: 0.501
Variant Score: 0.297
- Transcripts:
- PNO1:ENST00000263657.7:c.295A>G:p.(Ile99Val)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- UK10K: 0.0264%
- gnomAD_E_AMR: 0.0089%
- gnomAD_E_EAS: 0.0630%
- gnomAD_E_NFE: 0.0242%
- gnomAD_E_SAS: 0.0139%
- gnomAD_G_AFR: 0.0072%
- gnomAD_G_AMR: 0.0065%
- gnomAD_G_EAS: 0.0385%
- gnomAD_G_NFE: 0.0147%
- gnomAD_G_SAS: 0.0207%
- Transcripts:
- PNO1:ENST00000263657.7:c.620+3309G>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- UK10K: 0.0264%
- gnomAD_G_AFR: 0.0024%
- gnomAD_G_AMR: 0.0131%
- gnomAD_G_NFE: 0.0118%
- gnomAD_G_SAS: 0.0207%
- Transcripts:
- PNO1:ENST00000263657.7:c.621-4425del:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- No frequency data
- Proximity score 0.504 in interactome to SPTBN1 and phenotypic similarity 0.685 to Developmental delay, impaired speech, and behavioral abnormalities associated with SPTBN1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0032408, Breast mass
- HP:0006625, Multifocal breast carcinoma - HP:0032408, Breast mass
- Known diseases:
- OMIM:127750 Dementia, Lewy body - autosomal dominant
- OMIM:168601 Parkinson disease 1 - autosomal dominant
- OMIM:605543 Parkinson disease 4 - autosomal dominant
- ORPHA:171695 Parkinsonian-pyramidal syndrome - autosomal dominant
- ORPHA:2828 Young-onset Parkinson disease - autosomal recessive
- ORPHA:411602 Hereditary late-onset Parkinson disease - autosomal dominant
- ORPHA:411602 Hereditary late-onset Parkinson disease - autosomal dominant
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.066 (p=3.0E-1)
Phenotype Score: 0.504
Variant Score: 0.588
- Pathogenicity Data:
- Best Score: 0.587859
- REMM: 0.588
- Frequency Data:
- No frequency data
- Phenotypic similarity 0.484 to Familial thoracic aortic aneurysm and aortic dissection associated with TGFBR1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0000766, Abnormal sternum morphology
- HP:0006625, Multifocal breast carcinoma - HP:0000766, Abnormal sternum morphology
- Phenotypic similarity 0.334 to mouse mutant involving TGFBR1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0000160, kyphosis
- HP:0006625, Multifocal breast carcinoma - MP:0000160, kyphosis
- Proximity score 0.505 in interactome to SPTBN1 and phenotypic similarity 0.685 to Developmental delay, impaired speech, and behavioral abnormalities associated with SPTBN1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0032408, Breast mass
- HP:0006625, Multifocal breast carcinoma - HP:0032408, Breast mass
- Known diseases:
- OMIM:132800 Multiple self-healing squamous epithelioma, susceptibility to (susceptibility)
- OMIM:609192 Loeys-Dietz syndrome 1 - autosomal dominant
- ORPHA:60030 Loeys-Dietz syndrome - autosomal dominant
- ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection - autosomal dominant
AUTOSOMAL_DOMINANT
Exomiser Score: 0.064 (p=3.0E-1)
Phenotype Score: 0.505
Variant Score: 0.583
- Phenotype matches to diseases consistent with this MOI:
- Phenotypic similarity 0.484 to ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection
- Phenotypic similarity 0.474 to OMIM:609192 Loeys-Dietz syndrome 1
- Phenotypic similarity 0.463 to ORPHA:60030 Loeys-Dietz syndrome
- Transcripts:
- TGFBR1:ENST00000374994.9:c.1255+407G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.583229
- REMM: 0.583
- Frequency Data:
- No frequency data
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.002 (p=6.7E-1)
Phenotype Score: 0.252
Variant Score: 0.465
- Transcripts:
- TGFBR1:ENST00000374994.9:c.1255+407G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.583229
- REMM: 0.583
- Frequency Data:
- No frequency data
- Transcripts:
- TGFBR1:ENST00000374994.9::
- Pathogenicity Data:
- Best Score: 0.494182
- REMM: 0.494
- Frequency Data:
- UK10K: 0.9918%
- gnomAD_G_AFR: 0.1493%
- gnomAD_G_AMR: 0.3598%
- gnomAD_G_NFE: 0.8543%
- gnomAD_G_SAS: 1.1623%
- Transcripts:
- TGFBR1:ENST00000374994.9::
- Pathogenicity Data:
- Best Score: 0.00770556
- REMM: 0.008
- Frequency Data:
- gnomAD_G_AMR: 0.0262%
- gnomAD_G_NFE: 0.0059%
- Proximity score 0.502 in interactome to TERT and phenotypic similarity 0.950 to Familial melanoma associated with TERT.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0100013, Neoplasm of the breast
- HP:0006625, Multifocal breast carcinoma - HP:0100013, Neoplasm of the breast
- Proximity score 0.502 in interactome to TERT and phenotypic similarity 0.357 to mouse mutant of TERT.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0003345, decreased rib number
- HP:0006625, Multifocal breast carcinoma - MP:0003345, decreased rib number
- Known diseases:
- OMIM:616669 Immunodeficiency 45 - autosomal recessive
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.057 (p=3.1E-1)
Phenotype Score: 0.502
Variant Score: 0.573
- Transcripts:
- IFNAR2:ENST00000342136.9:c.540+1416T>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.600962
- REMM: 0.601
- Frequency Data:
- No frequency data
- Transcripts:
- IFNAR2:ENST00000342136.9:c.55+806G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.544413
- REMM: 0.544
- Frequency Data:
- No frequency data
AUTOSOMAL_DOMINANT
Exomiser Score: 0.006 (p=5.3E-1)
Phenotype Score: 0.251
Variant Score: 0.601
- Transcripts:
- IFNAR2:ENST00000342136.9:c.540+1416T>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.600962
- REMM: 0.601
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.415281
- REMM: 0.415
- Frequency Data:
- No frequency data
- Transcripts:
- IFNAR2:ENST00000342136.9:c.840+309del:p.(=)
- Pathogenicity Data:
- Best Score: 0.415281
- REMM: 0.415
- Frequency Data:
- gnomAD_G_AFR: 0.0569%
- gnomAD_G_AMR: 0.0959%
- gnomAD_G_EAS: 0.1044%
- gnomAD_G_NFE: 0.1679%
- gnomAD_G_SAS: 0.0774%
- Transcripts:
- IFNAR2:ENST00000342136.9:c.55+782_55+805del:p.(=)
- Pathogenicity Data:
- Best Score: 0.371296
- REMM: 0.371
- Frequency Data:
- No frequency data
- Proximity score 0.514 in interactome to PEX3 and phenotypic similarity 0.643 to ?Peroxisome biogenesis disorder 10B associated with PEX3.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003186, Inverted nipples
- HP:0006625, Multifocal breast carcinoma - HP:0003186, Inverted nipples
- Proximity score 0.514 in interactome to PEX3 and phenotypic similarity 0.362 to mouse mutant of PEX3.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0000137, abnormal vertebrae morphology
- HP:0006625, Multifocal breast carcinoma - MP:0000137, abnormal vertebrae morphology
- Known diseases:
- OMIM:614886 Peroxisome biogenesis disorder 12A (Zellweger) - autosomal recessive
- ORPHA:44 Neonatal adrenoleukodystrophy - autosomal recessive
- ORPHA:772 Infantile Refsum disease - autosomal recessive
- ORPHA:912 Zellweger syndrome - autosomal recessive
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.052 (p=3.2E-1)
Phenotype Score: 0.514
Variant Score: 0.550
- Transcripts:
- PEX19:ENST00000368072.10:c.*2717A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.735676
- REMM: 0.736
- Frequency Data:
- UK10K: 0.0132%
- gnomAD_E_AMR: 0.0770%
- gnomAD_E_NFE: 0.0287%
- gnomAD_E_SAS: 0.0129%
- gnomAD_G_AFR: 0.0024%
- gnomAD_G_AMR: 0.0784%
- gnomAD_G_NFE: 0.0206%
- gnomAD_G_SAS: 0.0207%
- Transcripts:
- PEX19:ENST00000368072.10::
- Pathogenicity Data:
- Best Score: 0.385555
- REMM: 0.386
- Frequency Data:
- gnomAD_G_AFR: 0.2226%
- gnomAD_G_AMR: 0.0544%
- gnomAD_G_EAS: 0.0198%
- gnomAD_G_NFE: 0.0329%
AUTOSOMAL_DOMINANT
Exomiser Score: 0.019 (p=4.0E-1)
Phenotype Score: 0.257
Variant Score: 0.728
- Transcripts:
- PEX19:ENST00000368072.10:c.*2717A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.735676
- REMM: 0.736
- Frequency Data:
- UK10K: 0.0132%
- gnomAD_E_AMR: 0.0770%
- gnomAD_E_NFE: 0.0287%
- gnomAD_E_SAS: 0.0129%
- gnomAD_G_AFR: 0.0024%
- gnomAD_G_AMR: 0.0784%
- gnomAD_G_NFE: 0.0206%
- gnomAD_G_SAS: 0.0207%
- Phenotypic similarity 0.406 to zebrafish mutant involving TRPM7.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - ZP:0002843, Weberian apparatus malformed, abnormal
- HP:0006625, Multifocal breast carcinoma - ZP:0002843, Weberian apparatus malformed, abnormal
- Proximity score 0.505 in interactome to TRPV6 and phenotypic similarity 0.524 to Neonatal severe primary hyperparathyroidism associated with TRPV6.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0000774, Narrow chest
- HP:0006625, Multifocal breast carcinoma - HP:0000774, Narrow chest
- Proximity score 0.505 in interactome to TRPV6 and phenotypic similarity 0.641 to fish mutant of TRPV6.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - ZP:0006543, postcranial axial skeleton cartilaginous, abnormal
- HP:0006625, Multifocal breast carcinoma - ZP:0006543, postcranial axial skeleton cartilaginous, abnormal
- Known diseases:
- OMIM:105500 Amyotrophic lateral sclerosis-parkinsonism/dementia complex, susceptibility to (susceptibility)
AUTOSOMAL_DOMINANT
Exomiser Score: 0.052 (p=3.2E-1)
Phenotype Score: 0.505
Variant Score: 0.559
- Pathogenicity Data:
- Best Score: 0.558663
- REMM: 0.559
- Frequency Data:
- No frequency data
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.003 (p=5.9E-1)
Phenotype Score: 0.252
Variant Score: 0.541
- Pathogenicity Data:
- Best Score: 0.558663
- REMM: 0.559
- Frequency Data:
- No frequency data
- Transcripts:
- TRPM7:ENST00000646667.1:c.123-1313_123-1308del:p.(=)
- Pathogenicity Data:
- Best Score: 0.523565
- REMM: 0.524
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.473808
- REMM: 0.474
- Frequency Data:
- No frequency data
- Transcripts:
- TRPM7:ENST00000646667.1:c.123-3445_123-3444del:p.(=)
- Pathogenicity Data:
- Best Score: 0.404804
- REMM: 0.405
- Frequency Data:
- No frequency data
- Transcripts:
- TRPM7:ENST00000646667.1:c.661-777_661-766del:p.(=)
- Pathogenicity Data:
- Best Score: 0.394795
- REMM: 0.395
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.283185
- REMM: 0.283
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.200887
- REMM: 0.201
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.198273
- REMM: 0.198
- Frequency Data:
- No frequency data
- Transcripts:
- TRPM7:ENST00000646667.1:c.5467+1808del:p.(=)
- Pathogenicity Data:
- Best Score: 0.073448
- REMM: 0.073
- Frequency Data:
- No frequency data
- Transcripts:
- TRPM7:ENST00000646667.1:c.122+3012C>T:p.(=)
- Pathogenicity Data:
- Best Score: 5.59524E-4
- REMM: 0.001
- Frequency Data:
- No frequency data
- Transcripts:
- TRPM7:ENST00000646667.1:c.4-307G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- UK10K: 0.0132%
- gnomAD_G_AFR: 0.0024%
- gnomAD_G_AMR: 0.0393%
- gnomAD_G_NFE: 0.0162%
- gnomAD_G_SAS: 0.0414%
- Proximity score 0.502 in interactome to FOXA2 and phenotypic similarity 0.676 to Combined pituitary hormone deficiencies, genetic forms associated with FOXA2.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0010311, Aplasia/Hypoplasia of the breasts
- HP:0006625, Multifocal breast carcinoma - HP:0010311, Aplasia/Hypoplasia of the breasts
- Proximity score 0.502 in interactome to FOXA2 and phenotypic similarity 0.293 to mouse mutant of FOXA2.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0000932, absent notochord
- HP:0006625, Multifocal breast carcinoma - MP:0000932, absent notochord
- Known diseases:
- OMIM:125853 Diabetes mellitus, noninsulin-dependent - autosomal dominant
- OMIM:240800 Hypoglycemia of infancy, leucine-sensitive - autosomal dominant
- OMIM:256450 Hyperinsulinemic hypoglycemia, familial, 1 - autosomal dominant/recessive
- OMIM:610374 Diabetes mellitus, transient neonatal 2 - autosomal dominant
- OMIM:618857 Diabetes mellitus, permanent neonatal 3, with or without neurologic features - autosomal dominant/recessive
- ORPHA:276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency - autosomal dominant/recessive
- ORPHA:552 MODY - autosomal dominant
- ORPHA:79134 DEND syndrome - autosomal dominant/recessive
- ORPHA:99885 Isolated permanent neonatal diabetes mellitus - autosomal dominant/recessive
- ORPHA:99886 Transient neonatal diabetes mellitus - autosomal dominant
AUTOSOMAL_DOMINANT
Exomiser Score: 0.049 (p=3.3E-1)
Phenotype Score: 0.502
Variant Score: 0.557
- Transcripts:
- ABCC8:ENST00000389817.8:c.1631-4848del:p.(=)
- Pathogenicity Data:
- Best Score: 0.556585
- REMM: 0.557
- Frequency Data:
- No frequency data
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.029 (p=3.7E-1)
Phenotype Score: 0.502
Variant Score: 0.496
- Transcripts:
- ABCC8:ENST00000389817.8:c.1631-4848del:p.(=)
- Pathogenicity Data:
- Best Score: 0.556585
- REMM: 0.557
- Frequency Data:
- No frequency data
- Transcripts:
- ABCC8:ENST00000389817.8:c.3651-836_3651-835del:p.(=)
- Pathogenicity Data:
- Best Score: 0.435342
- REMM: 0.435
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.108117
- REMM: 0.108
- Frequency Data:
- No frequency data
- Phenotypic similarity 0.368 to Autosomal dominant optic atrophy, classic form associated with DNM1L.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003691, Scapular winging
- HP:0006625, Multifocal breast carcinoma - HP:0003691, Scapular winging
- Proximity score 0.502 in interactome to PRKN and phenotypic similarity 0.998 to Ovarian cancer, somatic associated with PRKN.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003002, Breast carcinoma
- HP:0006625, Multifocal breast carcinoma - HP:0003002, Breast carcinoma
- Proximity score 0.502 in interactome to PRKN and phenotypic similarity 0.368 to mouse mutant of PRKN.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0000160, kyphosis
- HP:0006625, Multifocal breast carcinoma - MP:0000160, kyphosis
- Known diseases:
- OMIM:610708 Optic atrophy 5 - autosomal dominant
- OMIM:614388 Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 - autosomal dominant/recessive
- ORPHA:330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect - autosomal dominant/recessive
- ORPHA:98673 Autosomal dominant optic atrophy, classic form - autosomal dominant
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.049 (p=3.3E-1)
Phenotype Score: 0.502
Variant Score: 0.556
- Pathogenicity Data:
- Best Score: 0.672207
- REMM: 0.672
- Frequency Data:
- UK10K: 0.6348%
- gnomAD_G_AFR: 0.1394%
- gnomAD_G_AMR: 0.4314%
- gnomAD_G_NFE: 0.6735%
- gnomAD_G_SAS: 0.7457%
- Pathogenicity Data:
- Best Score: 0.626621
- REMM: 0.627
- Frequency Data:
- UK10K: 0.6744%
- gnomAD_G_AFR: 0.1275%
- gnomAD_G_AMR: 0.4182%
- gnomAD_G_NFE: 0.6396%
- gnomAD_G_SAS: 0.7045%
AUTOSOMAL_DOMINANT
Exomiser Score: 0.000 (p=8.2E-1)
Phenotype Score: 0.502
Variant Score: 0.023
- Phenotype matches to diseases consistent with this MOI:
- Phenotypic similarity 0.368 to ORPHA:98673 Autosomal dominant optic atrophy, classic form
- Pathogenicity Data:
- Best Score: 0.0233667
- REMM: 0.023
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.001
- REMM: 0.001
- Frequency Data:
- UK10K: 0.5686%
- gnomAD_G_AFR: 0.2047%
- gnomAD_G_AMR: 0.6698%
- gnomAD_G_NFE: 0.9171%
- gnomAD_G_SAS: 0.9295%
- Pathogenicity Data:
- Best Score: 7.5E-4
- REMM: 0.001
- Frequency Data:
- gnomAD_G_AFR: 0.3084%
- gnomAD_G_AMR: 0.7807%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 1.6531%
- gnomAD_G_SAS: 0.1658%
- Phenotypic similarity 0.527 to Anauxetic dysplasia 2 associated with POP1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0000914, Shield chest
- HP:0006625, Multifocal breast carcinoma - HP:0000914, Shield chest
- Proximity score 0.500 in interactome to EIF4A2 and phenotypic similarity 0.643 to Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures associated with EIF4A2.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003186, Inverted nipples
- HP:0006625, Multifocal breast carcinoma - HP:0003186, Inverted nipples
- Known diseases:
- OMIM:617396 Anauxetic dysplasia 2 - autosomal recessive
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.048 (p=3.3E-1)
Phenotype Score: 0.527
Variant Score: 0.526
- Phenotype matches to diseases consistent with this MOI:
- Phenotypic similarity 0.527 to OMIM:617396 Anauxetic dysplasia 2
- Transcripts:
- POP1:ENST00000401707.7::
- Pathogenicity Data:
- Best Score: 0.791668
- REMM: 0.792
- Frequency Data:
- UK10K: 0.8067%
- gnomAD_G_AFR: 0.2141%
- gnomAD_G_AMR: 1.1835%
- gnomAD_G_NFE: 1.1113%
- gnomAD_G_SAS: 0.5390%
- Transcripts:
- POP1:ENST00000401707.7:c.736-1042del:p.(=)
- Pathogenicity Data:
- Best Score: 0.503316
- REMM: 0.503
- Frequency Data:
- No frequency data
AUTOSOMAL_DOMINANT
Exomiser Score: 0.002 (p=6.3E-1)
Phenotype Score: 0.250
Variant Score: 0.503
- Transcripts:
- POP1:ENST00000401707.7:c.736-1042del:p.(=)
- Pathogenicity Data:
- Best Score: 0.503316
- REMM: 0.503
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.318182
- REMM: 0.318
- Frequency Data:
- No frequency data
- Transcripts:
- POP1:ENST00000401707.7::
- Pathogenicity Data:
- Best Score: 0.287
- REMM: 0.287
- Frequency Data:
- No frequency data
- Transcripts:
- POP1:ENST00000401707.7::
- Pathogenicity Data:
- Best Score: 0.784731
- REMM: 0.785
- Frequency Data:
- UK10K: 1.3885%
- gnomAD_G_AFR: 0.3187%
- gnomAD_G_AMR: 1.6505%
- gnomAD_G_NFE: 1.7707%
- gnomAD_G_SAS: 0.6878%
- Transcripts:
- POP1:ENST00000401707.7:c.-2-1824_-2-1823insT:p.(=)
- Pathogenicity Data:
- Best Score: 0.254753
- REMM: 0.255
- Frequency Data:
- No frequency data
- Phenotypic similarity 0.319 to mouse mutant involving HNF1A.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0000063, decreased bone mineral density
- HP:0006625, Multifocal breast carcinoma - MP:0000063, decreased bone mineral density
- Proximity score 0.506 in interactome to SLC35A2 and phenotypic similarity 0.643 to SLC35A2-CDG associated with SLC35A2.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003186, Inverted nipples
- HP:0006625, Multifocal breast carcinoma - HP:0003186, Inverted nipples
- Known diseases:
- OMIM:125853 Diabetes mellitus, noninsulin-dependent, 2 (susceptibility)
- OMIM:142330 Hepatic adenoma, somatic - autosomal dominant
- OMIM:144700 Renal cell carcinoma - unknown
- OMIM:222100 Diabetes mellitus, insulin-dependent (susceptibility)
- OMIM:600496 MODY, type III - autosomal dominant
- OMIM:612520 Diabetes mellitus, insulin-dependent, 20 - unknown
- ORPHA:552 MODY - autosomal dominant
AUTOSOMAL_DOMINANT
Exomiser Score: 0.048 (p=3.3E-1)
Phenotype Score: 0.506
Variant Score: 0.549
- Transcripts:
- HNF1A:ENST00000257555.11::
- Pathogenicity Data:
- Best Score: 0.548746
- REMM: 0.549
- Frequency Data:
- No frequency data
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.004 (p=5.6E-1)
Phenotype Score: 0.506
Variant Score: 0.284
- Transcripts:
- HNF1A:ENST00000257555.11::
- Pathogenicity Data:
- Best Score: 0.548746
- REMM: 0.549
- Frequency Data:
- No frequency data
- Transcripts:
- HNF1A:ENST00000257555.11::
- Pathogenicity Data:
- Best Score: 0.0182687
- REMM: 0.018
- Frequency Data:
- No frequency data
- Transcripts:
- HNF1A:ENST00000257555.11::
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- No frequency data
- Proximity score 0.503 in interactome to ALMS1 and phenotypic similarity 0.614 to Alstrom syndrome associated with ALMS1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0000771, Gynecomastia
- HP:0006625, Multifocal breast carcinoma - HP:0000771, Gynecomastia
- Known diseases:
- OMIM:614845 Nephronophthisis 15 - autosomal recessive
- ORPHA:3156 Senior-Loken syndrome - autosomal recessive
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.037 (p=3.5E-1)
Phenotype Score: 0.503
Variant Score: 0.523
- Transcripts:
- CEP164:ENST00000278935.8:c.1935-838del:p.(=)
- Pathogenicity Data:
- Best Score: 0.522969
- REMM: 0.523
- Frequency Data:
- No frequency data
AUTOSOMAL_DOMINANT
Exomiser Score: 0.000 (p=9.1E-1)
Phenotype Score: 0.251
Variant Score: 0.063
- Transcripts:
- CEP164:ENST00000278935.8:c.3502-436G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0634234
- REMM: 0.063
- Frequency Data:
- No frequency data
- Transcripts:
- CEP164:ENST00000278935.8:c.4060G>A:p.(Asp1354Asn)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- UK10K: 0.0132%
- gnomAD_E_AFR: 0.0030%
- gnomAD_E_AMR: 0.0089%
- gnomAD_E_NFE: 0.0137%
- gnomAD_E_SAS: 0.1310%
- gnomAD_G_AFR: 0.0072%
- gnomAD_G_AMR: 0.0131%
- gnomAD_G_NFE: 0.0279%
- gnomAD_G_SAS: 0.1244%
- Transcripts:
- CEP164:ENST00000278935.8::
- Pathogenicity Data:
- Best Score: 0.0430552
- REMM: 0.043
- Frequency Data:
- No frequency data
- Transcripts:
- CEP164:ENST00000278935.8:c.82+855_82+856del:p.(=)
- Pathogenicity Data:
- Best Score: 0.0324742
- REMM: 0.032
- Frequency Data:
- No frequency data
- Transcripts:
- CEP164:ENST00000278935.8:c.3502-429G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- No frequency data
- Transcripts:
- CEP164:ENST00000278935.8::
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- No frequency data
- Proximity score 0.506 in interactome to IDH1 and phenotypic similarity 0.998 to Maffucci syndrome associated with IDH1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003002, Breast carcinoma
- HP:0006625, Multifocal breast carcinoma - HP:0003002, Breast carcinoma
- Known diseases:
- OMIM:271980 Succinic semialdehyde dehydrogenase deficiency - autosomal recessive
- ORPHA:22 Succinic semialdehyde dehydrogenase deficiency - autosomal recessive
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.036 (p=3.5E-1)
Phenotype Score: 0.506
Variant Score: 0.517
- Transcripts:
- ALDH5A1:ENST00000357578.8:c.961G>A:p.(Val321Met)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- UK10K: 0.6348%
- gnomAD_E_AFR: 0.0836%
- gnomAD_E_AMR: 0.1409%
- gnomAD_E_EAS: 0.0025%
- gnomAD_E_NFE: 0.5619%
- gnomAD_E_SAS: 0.0812%
- gnomAD_G_AFR: 0.0626%
- gnomAD_G_AMR: 0.1635%
- gnomAD_G_NFE: 0.5748%
- gnomAD_G_SAS: 0.0829%
- Transcripts:
- ALDH5A1:ENST00000357578.8::
- Pathogenicity Data:
- Best Score: 0.505833
- REMM: 0.506
- Frequency Data:
- No frequency data
AUTOSOMAL_DOMINANT
Exomiser Score: 0.002 (p=6.2E-1)
Phenotype Score: 0.253
Variant Score: 0.506
- Transcripts:
- ALDH5A1:ENST00000357578.8::
- Pathogenicity Data:
- Best Score: 0.505833
- REMM: 0.506
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.169929
- REMM: 0.170
- Frequency Data:
- No frequency data
- Transcripts:
- ALDH5A1:ENST00000357578.8:c.726+1288T>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- No frequency data
- Phenotypic similarity 0.950 to Familial melanoma associated with CDKN2B.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0100013, Neoplasm of the breast
- HP:0006625, Multifocal breast carcinoma - HP:0100013, Neoplasm of the breast
- Proximity score 0.507 in interactome to CDKN2C and phenotypic similarity 0.630 to Multiple endocrine neoplasia type 1 associated with CDKN2C.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0100829, Galactorrhea
- HP:0006625, Multifocal breast carcinoma - HP:0100829, Galactorrhea
- Proximity score 0.507 in interactome to CDKN2C and phenotypic similarity 0.243 to mouse mutant of CDKN2C.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0000321, increased bone marrow cell number
- HP:0006625, Multifocal breast carcinoma - MP:0000321, increased bone marrow cell number
AUTOSOMAL_DOMINANT
Exomiser Score: 0.032 (p=3.6E-1)
Phenotype Score: 0.950
Variant Score: 0.000
- Phenotype matches to diseases consistent with this MOI:
- Phenotypic similarity 0.950 to ORPHA:618 Familial melanoma
- Phenotypic similarity 0.630 to ORPHA:652 Multiple endocrine neoplasia type 1
- Transcripts:
- CDKN2B:ENST00000276925.7::
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- UK10K: 0.0132%
- gnomAD_G_AMR: 0.0262%
- gnomAD_G_NFE: 0.0088%
- Proximity score 0.502 in interactome to FOXA2 and phenotypic similarity 0.676 to Combined pituitary hormone deficiencies, genetic forms associated with FOXA2.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0010311, Aplasia/Hypoplasia of the breasts
- HP:0006625, Multifocal breast carcinoma - HP:0010311, Aplasia/Hypoplasia of the breasts
- Proximity score 0.502 in interactome to FOXA2 and phenotypic similarity 0.293 to mouse mutant of FOXA2.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0000932, absent notochord
- HP:0006625, Multifocal breast carcinoma - MP:0000932, absent notochord
- Known diseases:
- OMIM:125853 Diabetes mellitus, noninsulin-dependent (susceptibility)
- OMIM:227810 Fanconi-Bickel syndrome - autosomal recessive
- ORPHA:2088 Fanconi-Bickel syndrome - autosomal recessive
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.030 (p=3.7E-1)
Phenotype Score: 0.502
Variant Score: 0.499
- Transcripts:
- SLC2A2:ENST00000314251.8:c.496+199A>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.757394
- REMM: 0.757
- Frequency Data:
- UK10K: 0.3306%
- gnomAD_G_AFR: 0.0529%
- gnomAD_G_AMR: 0.3603%
- gnomAD_G_NFE: 0.3912%
- gnomAD_G_SAS: 0.6445%
- Transcripts:
- SLC2A2:ENST00000314251.8:c.*8dup:p.(=)
- Pathogenicity Data:
- Best Score: 0.556028
- REMM: 0.556
- Frequency Data:
- gnomAD_E_AFR: 1.2511%
- gnomAD_E_AMR: 0.8841%
- gnomAD_E_EAS: 0.2446%
- gnomAD_E_NFE: 1.3776%
- gnomAD_E_SAS: 1.3166%
- gnomAD_G_AFR: 0.4611%
- gnomAD_G_AMR: 0.3510%
- gnomAD_G_EAS: 0.0589%
- gnomAD_G_NFE: 0.4515%
- gnomAD_G_SAS: 0.6672%
- Proximity score 0.503 in interactome to BMP6 and phenotypic similarity 0.614 to Symptomatic form of HFE-related hemochromatosis associated with BMP6.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0000771, Gynecomastia
- HP:0006625, Multifocal breast carcinoma - HP:0000771, Gynecomastia
- Proximity score 0.503 in interactome to BMP6 and phenotypic similarity 0.372 to mouse mutant of BMP6.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0004174, abnormal spine curvature
- HP:0006625, Multifocal breast carcinoma - MP:0004174, abnormal spine curvature
- Known diseases:
- OMIM:613313 Hemochromatosis, type 2B - autosomal recessive
- ORPHA:79230 HJV or HAMP-related hemochromatosis - autosomal recessive
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.028 (p=3.7E-1)
Phenotype Score: 0.503
Variant Score: 0.491
- Transcripts:
- HAMP:ENST00000222304.5:c.150+7G>A:p.?
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- UK10K: 0.0529%
- gnomAD_E_AFR: 0.0060%
- gnomAD_E_AMR: 0.0425%
- gnomAD_E_EAS: 0.0025%
- gnomAD_E_NFE: 0.0720%
- gnomAD_E_SAS: 0.1832%
- gnomAD_G_AFR: 0.0241%
- gnomAD_G_AMR: 0.0981%
- gnomAD_G_NFE: 0.0809%
- gnomAD_G_SAS: 0.2076%
- Transcripts:
- HAMP:ENST00000222304.5::
- Pathogenicity Data:
- Best Score: 0.20719
- REMM: 0.207
- Frequency Data:
- gnomAD_G_NFE: 0.0029%
AUTOSOMAL_DOMINANT
Exomiser Score: 0.000 (p=8.7E-1)
Phenotype Score: 0.251
Variant Score: 0.207
- Transcripts:
- HAMP:ENST00000222304.5::
- Pathogenicity Data:
- Best Score: 0.20719
- REMM: 0.207
- Frequency Data:
- gnomAD_G_NFE: 0.0029%
- Phenotypic similarity 0.337 to mouse mutant involving PAX6.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0002116, abnormal craniofacial bone morphology
- HP:0006625, Multifocal breast carcinoma - MP:0002116, abnormal craniofacial bone morphology
- Proximity score 0.513 in interactome to SOX3 and phenotypic similarity 0.676 to Non-acquired panhypopituitarism associated with SOX3.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0010311, Aplasia/Hypoplasia of the breasts
- HP:0006625, Multifocal breast carcinoma - HP:0010311, Aplasia/Hypoplasia of the breasts
- Proximity score 0.513 in interactome to SOX3 and phenotypic similarity 0.293 to mouse mutant of SOX3.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0002100, abnormal tooth morphology
- HP:0006625, Multifocal breast carcinoma - MP:0002100, abnormal tooth morphology
- Known diseases:
- OMIM:106210 Cataract with late-onset corneal dystrophy - autosomal dominant
- OMIM:120200 Microphthalmia/coloboma 12 - autosomal dominant
- OMIM:120430 ?Coloboma of optic nerve (unconfirmed)
- OMIM:136520 Foveal hypoplasia 1 - autosomal dominant
- OMIM:148190 Keratitis - autosomal dominant
- OMIM:165550 Optic nerve hypoplasia - autosomal dominant
- OMIM:604229 Anterior segment dysgenesis 5, multiple subtypes - autosomal dominant
- ORPHA:1065 Aniridia-cerebellar ataxia-intellectual disability syndrome - autosomal dominant/recessive
- ORPHA:2253 Foveal hypoplasia-presenile cataract syndrome - autosomal dominant
- ORPHA:2334 Autosomal dominant keratitis - autosomal dominant
- ORPHA:250923 Isolated aniridia - autosomal dominant
- ORPHA:35737 Morning glory disc anomaly - autosomal dominant
- ORPHA:708 Peters anomaly - autosomal dominant
- ORPHA:893 WAGR syndrome (CNV)
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.025 (p=3.8E-1)
Phenotype Score: 0.513
Variant Score: 0.469
- Transcripts:
- PAX6:ENST00000640368.2:c.565+1859G>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.887007
- REMM: 0.887
- Frequency Data:
- gnomAD_G_AFR: 0.0337%
- gnomAD_G_AMR: 0.1045%
- gnomAD_G_NFE: 0.0544%
- Pathogenicity Data:
- Best Score: 0.06465
- REMM: 0.065
- Frequency Data:
- No frequency data
AUTOSOMAL_DOMINANT
Exomiser Score: 0.001 (p=7.7E-1)
Phenotype Score: 0.513
Variant Score: 0.065
- Pathogenicity Data:
- Best Score: 0.06465
- REMM: 0.065
- Frequency Data:
- No frequency data
- Phenotypic similarity 0.522 to 3M syndrome associated with OBSL1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0010306, Short thorax
- HP:0006625, Multifocal breast carcinoma - HP:0010306, Short thorax
- Proximity score 0.500 in interactome to STK11 and phenotypic similarity 0.998 to Peutz-Jeghers syndrome associated with STK11.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003002, Breast carcinoma
- HP:0006625, Multifocal breast carcinoma - HP:0003002, Breast carcinoma
- Proximity score 0.500 in interactome to STK11 and phenotypic similarity 0.306 to mouse mutant of STK11.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0002825, abnormal notochord morphology
- HP:0006625, Multifocal breast carcinoma - MP:0002825, abnormal notochord morphology
- Known diseases:
- OMIM:612921 3-M syndrome 2 - autosomal recessive
- ORPHA:2616 3M syndrome - autosomal recessive
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.024 (p=3.9E-1)
Phenotype Score: 0.522
Variant Score: 0.452
- Phenotype matches to diseases consistent with this MOI:
- Phenotypic similarity 0.522 to ORPHA:2616 3M syndrome
- Phenotypic similarity 0.517 to OMIM:612921 3-M syndrome 2
- Transcripts:
- OBSL1:ENST00000404537.6:c.-42_-41insC:p.(=)
- Pathogenicity Data:
- Best Score: 0.555601
- REMM: 0.556
- Frequency Data:
- gnomAD_E_AFR: 0.0053%
- gnomAD_E_AMR: 0.0716%
- gnomAD_E_EAS: 0.0088%
- gnomAD_E_NFE: 0.0398%
- gnomAD_E_SAS: 0.0644%
- Transcripts:
- OBSL1:ENST00000404537.6:c.-51A>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.35389
- REMM: 0.354
- Frequency Data:
- No frequency data
AUTOSOMAL_DOMINANT
Exomiser Score: 0.004 (p=5.8E-1)
Phenotype Score: 0.250
Variant Score: 0.550
- Transcripts:
- OBSL1:ENST00000404537.6:c.-42_-41insC:p.(=)
- Pathogenicity Data:
- Best Score: 0.555601
- REMM: 0.556
- Frequency Data:
- gnomAD_E_AFR: 0.0053%
- gnomAD_E_AMR: 0.0716%
- gnomAD_E_EAS: 0.0088%
- gnomAD_E_NFE: 0.0398%
- gnomAD_E_SAS: 0.0644%
- Proximity score 0.504 in interactome to PNPLA6 and phenotypic similarity 0.613 to Cerebellar ataxia-hypogonadism syndrome associated with PNPLA6.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0000771, Gynecomastia
- HP:0006625, Multifocal breast carcinoma - HP:0000771, Gynecomastia
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.023 (p=3.9E-1)
Phenotype Score: 0.504
Variant Score: 0.469
- Transcripts:
- PLA2G3:ENST00000215885.4:c.206dup:p.(Ser70Valfs*3)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- UK10K: 0.5422%
- gnomAD_E_AFR: 0.0747%
- gnomAD_E_AMR: 0.4674%
- gnomAD_E_NFE: 0.5133%
- gnomAD_E_SAS: 0.0684%
- gnomAD_G_AFR: 0.0769%
- gnomAD_G_AMR: 0.5553%
- gnomAD_G_NFE: 0.4719%
- gnomAD_G_SAS: 0.0207%
- Transcripts:
- PLA2G3:ENST00000215885.4::
- Pathogenicity Data:
- Best Score: 0.244141
- REMM: 0.244
- Frequency Data:
- gnomAD_G_AFR: 1.9805%
- gnomAD_G_AMR: 0.3715%
- gnomAD_G_EAS: 0.1155%
- gnomAD_G_NFE: 0.1161%
- Phenotypic similarity 0.643 to Congenital disorder of glycosylation, type IIe associated with COG7.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003186, Inverted nipples
- HP:0006625, Multifocal breast carcinoma - HP:0003186, Inverted nipples
- Proximity score 0.500 in interactome to PMM2 and phenotypic similarity 0.643 to Congenital disorder of glycosylation, type Ia associated with PMM2.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003186, Inverted nipples
- HP:0006625, Multifocal breast carcinoma - HP:0003186, Inverted nipples
- Proximity score 0.500 in interactome to PMM2 and phenotypic similarity 0.369 to mouse mutant of PMM2.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0004703, abnormal vertebral column morphology
- HP:0006625, Multifocal breast carcinoma - MP:0004703, abnormal vertebral column morphology
- Proximity score 0.500 in interactome to PMM2 and phenotypic similarity 0.237 to fish mutant of PMM2.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - ZP:0000921, ceratohyal cartilage morphology, abnormal
- HP:0006625, Multifocal breast carcinoma - ZP:0000921, ceratohyal cartilage morphology, abnormal
- Known diseases:
- OMIM:608779 Congenital disorder of glycosylation, type IIe - autosomal recessive
- ORPHA:79333 COG7-CDG - autosomal recessive
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.021 (p=4.0E-1)
Phenotype Score: 0.643
Variant Score: 0.302
- Phenotype matches to diseases consistent with this MOI:
- Phenotypic similarity 0.643 to OMIM:608779 Congenital disorder of glycosylation, type IIe
- Transcripts:
- COG7:ENST00000307149.10:c.1475+2015G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.451118
- REMM: 0.451
- Frequency Data:
- No frequency data
- Transcripts:
- COG7:ENST00000307149.10:c.1009+451del:p.(=)
- Pathogenicity Data:
- Best Score: 0.299188
- REMM: 0.299
- Frequency Data:
- gnomAD_G_AFR: 0.4150%
- gnomAD_G_AMR: 0.7601%
- gnomAD_G_EAS: 0.2927%
- gnomAD_G_NFE: 1.5327%
- gnomAD_G_SAS: 0.8264%
AUTOSOMAL_DOMINANT
Exomiser Score: 0.001 (p=6.8E-1)
Phenotype Score: 0.250
Variant Score: 0.451
- Transcripts:
- COG7:ENST00000307149.10:c.1475+2015G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.451118
- REMM: 0.451
- Frequency Data:
- No frequency data
- Transcripts:
- COG7:ENST00000307149.10:c.1292+28G>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.00118333
- REMM: 0.001
- Frequency Data:
- UK10K: 1.0182%
- gnomAD_E_AFR: 0.2001%
- gnomAD_E_AMR: 0.6800%
- gnomAD_E_EAS: 0.0025%
- gnomAD_E_NFE: 1.1924%
- gnomAD_E_SAS: 0.3629%
- gnomAD_G_AFR: 0.1684%
- gnomAD_G_AMR: 0.9545%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 1.2465%
- gnomAD_G_SAS: 0.2279%
- Phenotypic similarity 0.239 to mouse mutant involving TYK2.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0006410, abnormal common myeloid progenitor cell morphology
- HP:0006625, Multifocal breast carcinoma - MP:0006410, abnormal common myeloid progenitor cell morphology
- Proximity score 0.503 in interactome to FASLG and phenotypic similarity 0.876 to Autoimmune lymphoproliferative syndrome associated with FASLG.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0010619, Fibroadenoma of the breast
- HP:0006625, Multifocal breast carcinoma - HP:0010619, Fibroadenoma of the breast
- Proximity score 0.503 in interactome to FASLG and phenotypic similarity 0.220 to mouse mutant of FASLG.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0001541, abnormal osteoclast physiology
- HP:0006625, Multifocal breast carcinoma - MP:0001541, abnormal osteoclast physiology
- Proximity score 0.503 in interactome to FASLG and phenotypic similarity 0.300 to fish mutant of FASLG.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - ZP:0000627, notochord bent, abnormal
- HP:0006625, Multifocal breast carcinoma - ZP:0000627, notochord bent, abnormal
- Known diseases:
- OMIM:611521 Immunodeficiency 35 - autosomal recessive
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.020 (p=4.0E-1)
Phenotype Score: 0.503
Variant Score: 0.456
- Transcripts:
- TYK2:ENST00000525621.6:c.2453G>A:p.(Arg818His)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- gnomAD_E_AFR: 0.1407%
- gnomAD_E_AMR: 0.0023%
- gnomAD_E_EAS: 0.0025%
- gnomAD_E_NFE: 0.0033%
- gnomAD_G_AFR: 0.1227%
- gnomAD_G_AMR: 0.0065%
- gnomAD_G_NFE: 0.0029%
- Transcripts:
- TYK2:ENST00000525621.6:c.193+587C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.323669
- REMM: 0.324
- Frequency Data:
- No frequency data
AUTOSOMAL_DOMINANT
Exomiser Score: 0.000 (p=8.1E-1)
Phenotype Score: 0.251
Variant Score: 0.324
- Transcripts:
- TYK2:ENST00000525621.6:c.193+587C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.323669
- REMM: 0.324
- Frequency Data:
- No frequency data
- Transcripts:
- TYK2:ENST00000525621.6:c.193+578T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.291205
- REMM: 0.291
- Frequency Data:
- No frequency data
- Transcripts:
- TYK2:ENST00000525621.6:c.193+589_193+590insCCC:p.(=)
- Pathogenicity Data:
- Best Score: 0.282024
- REMM: 0.282
- Frequency Data:
- No frequency data
- Transcripts:
- TYK2:ENST00000525621.6:c.193+604C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.278083
- REMM: 0.278
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.273362
- REMM: 0.273
- Frequency Data:
- gnomAD_G_AFR: 0.0044%
- gnomAD_G_NFE: 0.0073%
- Transcripts:
- TYK2:ENST00000525621.6:c.193+555C>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.264265
- REMM: 0.264
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.190903
- REMM: 0.191
- Frequency Data:
- No frequency data
- Transcripts:
- TYK2:ENST00000525621.6:c.193+606C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0528552
- REMM: 0.053
- Frequency Data:
- No frequency data
- Transcripts:
- TYK2:ENST00000525621.6:c.193+559T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.046598
- REMM: 0.047
- Frequency Data:
- No frequency data
- Proximity score 0.501 in interactome to STAG1 and phenotypic similarity 0.607 to Intellectual developmental disorder, autosomal dominant 47 associated with STAG1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0002558, Supernumerary nipple
- HP:0006625, Multifocal breast carcinoma - HP:0002558, Supernumerary nipple
- Proximity score 0.501 in interactome to STAG1 and phenotypic similarity 0.368 to mouse mutant of STAG1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0000160, kyphosis
- HP:0006625, Multifocal breast carcinoma - MP:0000160, kyphosis
AUTOSOMAL_DOMINANT
Exomiser Score: 0.014 (p=4.3E-1)
Phenotype Score: 0.501
Variant Score: 0.419
- Transcripts:
- CDCA8:ENST00000373055.6:c.585-804_585-802del:p.(=)
- Pathogenicity Data:
- Best Score: 0.418758
- REMM: 0.419
- Frequency Data:
- No frequency data
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.003 (p=6.1E-1)
Phenotype Score: 0.501
Variant Score: 0.238
- Transcripts:
- CDCA8:ENST00000373055.6:c.585-804_585-802del:p.(=)
- Pathogenicity Data:
- Best Score: 0.418758
- REMM: 0.419
- Frequency Data:
- No frequency data
- Transcripts:
- CDCA8:ENST00000373055.6:c.223+173T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.0574476
- REMM: 0.057
- Frequency Data:
- No frequency data
- Phenotypic similarity 0.614 to Frank-Ter Haar syndrome associated with SH3PXD2B.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0000771, Gynecomastia
- HP:0006625, Multifocal breast carcinoma - HP:0000771, Gynecomastia
- Phenotypic similarity 0.346 to mouse mutant involving SH3PXD2B.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0000160, kyphosis
- HP:0006625, Multifocal breast carcinoma - MP:0000160, kyphosis
- Proximity score 0.501 in interactome to HNRNPK and phenotypic similarity 0.638 to Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation associated with HNRNPK.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003186, Inverted nipples
- HP:0006625, Multifocal breast carcinoma - HP:0003186, Inverted nipples
- Known diseases:
- OMIM:249420 Frank-ter Haar syndrome - autosomal recessive
- ORPHA:137834 Frank-Ter Haar syndrome - autosomal recessive
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.014 (p=4.4E-1)
Phenotype Score: 0.614
Variant Score: 0.286
- Phenotype matches to diseases consistent with this MOI:
- Phenotypic similarity 0.614 to ORPHA:137834 Frank-Ter Haar syndrome
- Phenotypic similarity 0.431 to OMIM:249420 Frank-ter Haar syndrome
- Pathogenicity Data:
- Best Score: 0.431531
- REMM: 0.432
- Frequency Data:
- No frequency data
- Transcripts:
- SH3PXD2B:ENST00000311601.6:c.232+4606C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.173748
- REMM: 0.174
- Frequency Data:
- UK10K: 0.6215%
- gnomAD_G_AFR: 0.1035%
- gnomAD_G_AMR: 0.2549%
- gnomAD_G_NFE: 0.8892%
- gnomAD_G_SAS: 0.2694%
AUTOSOMAL_DOMINANT
Exomiser Score: 0.001 (p=7.0E-1)
Phenotype Score: 0.250
Variant Score: 0.432
- Pathogenicity Data:
- Best Score: 0.431531
- REMM: 0.432
- Frequency Data:
- No frequency data
- Transcripts:
- SH3PXD2B:ENST00000311601.6:c.156+5719del:p.(=)
- Pathogenicity Data:
- Best Score: 0.00989405
- REMM: 0.010
- Frequency Data:
- No frequency data
- Transcripts:
- SH3PXD2B:ENST00000311601.6:c.76-7151del:p.(=)
- Pathogenicity Data:
- Best Score: 0.0028
- REMM: 0.003
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.001
- REMM: 0.001
- Frequency Data:
- No frequency data
- Proximity score 0.519 in interactome to MEFV and phenotypic similarity 0.998 to Sweet syndrome associated with MEFV.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003002, Breast carcinoma
- HP:0006625, Multifocal breast carcinoma - HP:0003002, Breast carcinoma
- Proximity score 0.519 in interactome to MEFV and phenotypic similarity 0.255 to mouse mutant of MEFV.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0002933, joint inflammation
- HP:0006625, Multifocal breast carcinoma - MP:0002933, joint inflammation
AUTOSOMAL_DOMINANT
Exomiser Score: 0.013 (p=4.4E-1)
Phenotype Score: 0.519
Variant Score: 0.388
- Transcripts:
- CASP1:ENST00000533400.6::
- Pathogenicity Data:
- Best Score: 0.388177
- REMM: 0.388
- Frequency Data:
- No frequency data
- Proximity score 0.503 in interactome to SDHB and phenotypic similarity 0.904 to Cowden syndrome associated with SDHB.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003002, Breast carcinoma
- HP:0006625, Multifocal breast carcinoma - HP:0003002, Breast carcinoma
- Known diseases:
- OMIM:618226 Mitochondrial complex I deficiency, nuclear type 5 - autosomal recessive
- ORPHA:2609 Isolated complex I deficiency - autosomal recessive
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.012 (p=4.5E-1)
Phenotype Score: 0.503
Variant Score: 0.401
- Transcripts:
- NDUFS1:ENST00000233190.11:c.*1544_*1555dup:p.(=)
- Pathogenicity Data:
- Best Score: 0.490125
- REMM: 0.490
- Frequency Data:
- No frequency data
- Transcripts:
- NDUFS1:ENST00000233190.11:c.1393-975T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.745003
- REMM: 0.745
- Frequency Data:
- UK10K: 1.6530%
- gnomAD_G_AFR: 0.2333%
- gnomAD_G_AMR: 0.9146%
- gnomAD_G_EAS: 1.0031%
- gnomAD_G_NFE: 1.6682%
- gnomAD_G_SAS: 1.4493%
AUTOSOMAL_DOMINANT
Exomiser Score: 0.002 (p=6.4E-1)
Phenotype Score: 0.252
Variant Score: 0.490
- Transcripts:
- NDUFS1:ENST00000233190.11:c.*1544_*1555dup:p.(=)
- Pathogenicity Data:
- Best Score: 0.490125
- REMM: 0.490
- Frequency Data:
- No frequency data
- Transcripts:
- NDUFS1:ENST00000233190.11:c.153+856A>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.0253921
- REMM: 0.025
- Frequency Data:
- UK10K: 0.4364%
- gnomAD_G_AFR: 0.0192%
- gnomAD_G_AMR: 0.0980%
- gnomAD_G_NFE: 0.3748%
- Proximity score 0.502 in interactome to FASLG and phenotypic similarity 0.876 to Autoimmune lymphoproliferative syndrome associated with FASLG.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0010619, Fibroadenoma of the breast
- HP:0006625, Multifocal breast carcinoma - HP:0010619, Fibroadenoma of the breast
- Proximity score 0.502 in interactome to FASLG and phenotypic similarity 0.220 to mouse mutant of FASLG.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0001541, abnormal osteoclast physiology
- HP:0006625, Multifocal breast carcinoma - MP:0001541, abnormal osteoclast physiology
- Proximity score 0.502 in interactome to FASLG and phenotypic similarity 0.300 to fish mutant of FASLG.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - ZP:0000627, notochord bent, abnormal
- HP:0006625, Multifocal breast carcinoma - ZP:0000627, notochord bent, abnormal
- Known diseases - observed variants incompatible with mode of inheritance:
- ORPHA:2584 Classic mycosis fungoides (unconfirmed)
AUTOSOMAL_DOMINANT
Exomiser Score: 0.012 (p=4.5E-1)
Phenotype Score: 0.251
Variant Score: 0.685
- Pathogenicity Data:
- Best Score: 0.687444
- REMM: 0.687
- Frequency Data:
- gnomAD_G_AFR: 0.0128%
- gnomAD_G_AMR: 0.0068%
- gnomAD_G_NFE: 0.0309%
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.007 (p=5.0E-1)
Phenotype Score: 0.251
Variant Score: 0.630
- Pathogenicity Data:
- Best Score: 0.687444
- REMM: 0.687
- Frequency Data:
- gnomAD_G_AFR: 0.0128%
- gnomAD_G_AMR: 0.0068%
- gnomAD_G_NFE: 0.0309%
- Pathogenicity Data:
- Best Score: 0.654521
- REMM: 0.655
- Frequency Data:
- gnomAD_G_AFR: 0.6426%
- gnomAD_G_AMR: 0.3364%
- gnomAD_G_EAS: 0.2420%
- gnomAD_G_NFE: 0.2081%
- gnomAD_G_SAS: 0.1114%
- Pathogenicity Data:
- Best Score: 0.41725
- REMM: 0.417
- Frequency Data:
- gnomAD_G_AFR: 0.3038%
- gnomAD_G_AMR: 0.0185%
- gnomAD_G_EAS: 0.2017%
- gnomAD_G_NFE: 0.0548%
- gnomAD_G_SAS: 0.1011%
- Pathogenicity Data:
- Best Score: 0.246956
- REMM: 0.247
- Frequency Data:
- No frequency data
- Transcripts:
- TNFRSF1B:ENST00000376259.7::
- Pathogenicity Data:
- Best Score: 0.0042881
- REMM: 0.004
- Frequency Data:
- No frequency data
- Transcripts:
- TNFRSF1B:ENST00000376259.7:c.1105+847A>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- No frequency data
- Phenotypic similarity 0.607 to Char syndrome associated with TFAP2B.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0002558, Supernumerary nipple
- HP:0006625, Multifocal breast carcinoma - HP:0002558, Supernumerary nipple
- Proximity score 0.528 in interactome to KCTD1 and phenotypic similarity 0.641 to Scalp-ear-nipple syndrome associated with KCTD1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0100783, Breast aplasia
- HP:0006625, Multifocal breast carcinoma - HP:0100783, Breast aplasia
- Proximity score 0.528 in interactome to KCTD1 and phenotypic similarity 0.319 to mouse mutant of KCTD1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0000063, decreased bone mineral density
- HP:0006625, Multifocal breast carcinoma - MP:0000063, decreased bone mineral density
- Known diseases:
- OMIM:169100 Char syndrome - autosomal dominant
- OMIM:617035 Patent ductus arteriosus 2 - autosomal dominant
- ORPHA:46627 Char syndrome - autosomal dominant
AUTOSOMAL_DOMINANT
Exomiser Score: 0.012 (p=4.5E-1)
Phenotype Score: 0.607
Variant Score: 0.281
- Phenotype matches to diseases consistent with this MOI:
- Phenotypic similarity 0.607 to ORPHA:46627 Char syndrome
- Transcripts:
- TFAP2B:ENST00000393655.4::
- Pathogenicity Data:
- Best Score: 0.281135
- REMM: 0.281
- Frequency Data:
- No frequency data
- Phenotypic similarity 0.340 to Multicentric osteolysis-nodulosis-arthropathy spectrum associated with MMP2.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0000916, Broad clavicles
- HP:0006625, Multifocal breast carcinoma - HP:0000916, Broad clavicles
- Phenotypic similarity 0.329 to mouse mutant involving MMP2.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0003795, abnormal bone structure
- HP:0006625, Multifocal breast carcinoma - MP:0003795, abnormal bone structure
- Phenotypic similarity 0.261 to zebrafish mutant involving MMP2.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - ZP:0001052, mandibular arch skeleton morphology, abnormal
- HP:0006625, Multifocal breast carcinoma - ZP:0001052, mandibular arch skeleton morphology, abnormal
- Proximity score 0.502 in interactome to CDKN2A and phenotypic similarity 0.998 to Familial pancreatic carcinoma associated with CDKN2A.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003002, Breast carcinoma
- HP:0006625, Multifocal breast carcinoma - HP:0003002, Breast carcinoma
- Proximity score 0.502 in interactome to CDKN2A and phenotypic similarity 0.290 to mouse mutant of CDKN2A.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0003789, increased osteosarcoma incidence
- HP:0006625, Multifocal breast carcinoma - MP:0003789, increased osteosarcoma incidence
- Known diseases:
- OMIM:259600 Multicentric osteolysis, nodulosis, and arthropathy - autosomal recessive
- ORPHA:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum - autosomal recessive
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.011 (p=4.6E-1)
Phenotype Score: 0.502
Variant Score: 0.388
- Phenotype matches to diseases consistent with this MOI:
- Phenotypic similarity 0.340 to ORPHA:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum
- Transcripts:
- MMP2:ENST00000219070.9:c.1499G>C:p.(Arg500Pro)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- gnomAD_E_AMR: 0.0268%
- gnomAD_E_NFE: 0.0028%
- gnomAD_E_SAS: 0.0139%
- gnomAD_G_AMR: 0.0262%
- gnomAD_G_NFE: 0.0044%
- gnomAD_G_SAS: 0.0208%
- Transcripts:
- MMP2:ENST00000219070.9:c.1880-623G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.180497
- REMM: 0.180
- Frequency Data:
- gnomAD_G_AFR: 0.0494%
- gnomAD_G_AMR: 0.0930%
- gnomAD_G_NFE: 0.0207%
AUTOSOMAL_DOMINANT
Exomiser Score: 0.006 (p=5.3E-1)
Phenotype Score: 0.251
Variant Score: 0.598
- Transcripts:
- MMP2:ENST00000219070.9:c.1499G>C:p.(Arg500Pro)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- gnomAD_E_AMR: 0.0268%
- gnomAD_E_NFE: 0.0028%
- gnomAD_E_SAS: 0.0139%
- gnomAD_G_AMR: 0.0262%
- gnomAD_G_NFE: 0.0044%
- gnomAD_G_SAS: 0.0208%
- Transcripts:
- MMP2:ENST00000219070.9::
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- No frequency data
- Transcripts:
- MMP2:ENST00000219070.9::
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- No frequency data
- Proximity score 0.512 in interactome to PEX3 and phenotypic similarity 0.643 to ?Peroxisome biogenesis disorder 10B associated with PEX3.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003186, Inverted nipples
- HP:0006625, Multifocal breast carcinoma - HP:0003186, Inverted nipples
- Proximity score 0.512 in interactome to PEX3 and phenotypic similarity 0.362 to mouse mutant of PEX3.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0000137, abnormal vertebrae morphology
- HP:0006625, Multifocal breast carcinoma - MP:0000137, abnormal vertebrae morphology
- Known diseases:
- OMIM:614862 Peroxisome biogenesis disorder 4A (Zellweger) - autosomal recessive
- OMIM:614863 Peroxisome biogenesis disorder 4B - autosomal dominant/recessive
- OMIM:616617 Heimler syndrome 2 - autosomal recessive
- ORPHA:3220 Deafness-enamel hypoplasia-nail defects syndrome - autosomal recessive
- ORPHA:44 Neonatal adrenoleukodystrophy - autosomal dominant/recessive
- ORPHA:772 Infantile Refsum disease - autosomal dominant/recessive
- ORPHA:912 Zellweger syndrome - autosomal recessive
- ORPHA:95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome - autosomal recessive
AUTOSOMAL_DOMINANT
Exomiser Score: 0.010 (p=4.7E-1)
Phenotype Score: 0.512
Variant Score: 0.367
- Pathogenicity Data:
- Best Score: 0.367103
- REMM: 0.367
- Frequency Data:
- No frequency data
- Proximity score 0.503 in interactome to FGF17 and phenotypic similarity 0.620 to Kallmann syndrome associated with FGF17.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003187, Breast hypoplasia
- HP:0006625, Multifocal breast carcinoma - HP:0003187, Breast hypoplasia
AUTOSOMAL_DOMINANT
Exomiser Score: 0.010 (p=4.8E-1)
Phenotype Score: 0.503
Variant Score: 0.373
- Transcripts:
- EN2:ENST00000297375.4::
- Pathogenicity Data:
- Best Score: 0.372972
- REMM: 0.373
- Frequency Data:
- No frequency data
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.005 (p=5.4E-1)
Phenotype Score: 0.503
Variant Score: 0.305
- Transcripts:
- EN2:ENST00000297375.4::
- Pathogenicity Data:
- Best Score: 0.372972
- REMM: 0.373
- Frequency Data:
- No frequency data
- Transcripts:
- EN2:ENST00000297375.4::
- Pathogenicity Data:
- Best Score: 0.23801
- REMM: 0.238
- Frequency Data:
- No frequency data
- Transcripts:
- EN2:ENST00000297375.4::
- Pathogenicity Data:
- Best Score: 0.0381528
- REMM: 0.038
- Frequency Data:
- No frequency data
- Transcripts:
- EN2:ENST00000297375.4::
- Pathogenicity Data:
- Best Score: 0.0441786
- REMM: 0.044
- Frequency Data:
- UK10K: 0.4099%
- gnomAD_G_AFR: 0.0770%
- gnomAD_G_AMR: 0.4050%
- gnomAD_G_NFE: 0.4365%
- gnomAD_G_SAS: 0.8492%
- Phenotypic similarity 0.504 to Hypocalcemic vitamin D-resistant rickets associated with VDR.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0000765, Abnormal thorax morphology
- HP:0006625, Multifocal breast carcinoma - HP:0000765, Abnormal thorax morphology
- Phenotypic similarity 0.325 to mouse mutant involving VDR.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0005605, increased bone mass
- HP:0006625, Multifocal breast carcinoma - MP:0005605, increased bone mass
- Proximity score 0.504 in interactome to TRPV6 and phenotypic similarity 0.524 to Neonatal severe primary hyperparathyroidism associated with TRPV6.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0000774, Narrow chest
- HP:0006625, Multifocal breast carcinoma - HP:0000774, Narrow chest
- Proximity score 0.504 in interactome to TRPV6 and phenotypic similarity 0.641 to fish mutant of TRPV6.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - ZP:0006543, postcranial axial skeleton cartilaginous, abnormal
- HP:0006625, Multifocal breast carcinoma - ZP:0006543, postcranial axial skeleton cartilaginous, abnormal
- Known diseases:
- OMIM:277440 Rickets, vitamin D-resistant, type IIA - autosomal recessive
- ORPHA:93160 Hypocalcemic vitamin D-resistant rickets - autosomal recessive
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.006 (p=5.2E-1)
Phenotype Score: 0.504
Variant Score: 0.325
- Phenotype matches to diseases consistent with this MOI:
- Phenotypic similarity 0.504 to ORPHA:93160 Hypocalcemic vitamin D-resistant rickets
- Phenotypic similarity 0.472 to OMIM:277440 Rickets, vitamin D-resistant, type IIA
- Transcripts:
- VDR:ENST00000549336.6:c.756-1753_756-1748del:p.(=)
- Pathogenicity Data:
- Best Score: 0.453321
- REMM: 0.453
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.199476
- REMM: 0.199
- Frequency Data:
- gnomAD_G_AFR: 0.0245%
- gnomAD_G_AMR: 0.0667%
- gnomAD_G_EAS: 0.0591%
- gnomAD_G_NFE: 0.1011%
- gnomAD_G_SAS: 0.1051%
AUTOSOMAL_DOMINANT
Exomiser Score: 0.001 (p=6.8E-1)
Phenotype Score: 0.252
Variant Score: 0.453
- Transcripts:
- VDR:ENST00000549336.6:c.756-1753_756-1748del:p.(=)
- Pathogenicity Data:
- Best Score: 0.453321
- REMM: 0.453
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.0753131
- REMM: 0.075
- Frequency Data:
- No frequency data
- Transcripts:
- VDR:ENST00000549336.6:c.146+6668C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0828401
- REMM: 0.083
- Frequency Data:
- UK10K: 0.3438%
- gnomAD_G_AFR: 0.0986%
- gnomAD_G_AMR: 0.9413%
- gnomAD_G_NFE: 0.5042%
- gnomAD_G_SAS: 0.2897%
- Transcripts:
- VDR:ENST00000549336.6:c.755+2421C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.0
- REMM: 0.000
- Frequency Data:
- gnomAD_G_AFR: 0.0290%
- gnomAD_G_EAS: 0.0193%
- gnomAD_G_NFE: 0.0191%
- Phenotypic similarity 0.477 to Peroxisome biogenesis disorder 1A (Zellweger) associated with PEX1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0001591, Bell-shaped thorax
- HP:0006625, Multifocal breast carcinoma - HP:0001591, Bell-shaped thorax
- Proximity score 0.502 in interactome to PEX3 and phenotypic similarity 0.643 to ?Peroxisome biogenesis disorder 10B associated with PEX3.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003186, Inverted nipples
- HP:0006625, Multifocal breast carcinoma - HP:0003186, Inverted nipples
- Proximity score 0.502 in interactome to PEX3 and phenotypic similarity 0.362 to mouse mutant of PEX3.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0000137, abnormal vertebrae morphology
- HP:0006625, Multifocal breast carcinoma - MP:0000137, abnormal vertebrae morphology
- Known diseases:
- OMIM:214100 Peroxisome biogenesis disorder 1A (Zellweger) - autosomal recessive
- OMIM:234580 Heimler syndrome 1 - autosomal recessive
- OMIM:601539 Peroxisome biogenesis disorder 1B (NALD/IRD) - autosomal recessive
- ORPHA:3220 Deafness-enamel hypoplasia-nail defects syndrome - autosomal recessive
- ORPHA:44 Neonatal adrenoleukodystrophy - autosomal recessive
- ORPHA:772 Infantile Refsum disease - autosomal recessive
- ORPHA:912 Zellweger syndrome - autosomal recessive
AUTOSOMAL_DOMINANT
Exomiser Score: 0.006 (p=5.2E-1)
Phenotype Score: 0.251
Variant Score: 0.609
- Transcripts:
- PEX1:ENST00000248633.9:c.3438+629_3438+639del:p.(=)
- Pathogenicity Data:
- Best Score: 0.609521
- REMM: 0.610
- Frequency Data:
- gnomAD_G_NFE: 0.0049%
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.000 (p=8.4E-1)
Phenotype Score: 0.502
Variant Score: 0.004
- Phenotype matches to diseases consistent with this MOI:
- Phenotypic similarity 0.477 to OMIM:214100 Peroxisome biogenesis disorder 1A (Zellweger)
- Pathogenicity Data:
- Best Score: 0.00421429
- REMM: 0.004
- Frequency Data:
- No frequency data
- Phenotypic similarity 0.199 to mouse mutant involving PTGER1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0008080, abnormal CD8-positive, alpha-beta T cell differentiation
- HP:0006625, Multifocal breast carcinoma - MP:0008080, abnormal CD8-positive, alpha-beta T cell differentiation
- Proximity score 0.501 in interactome to GNAS and phenotypic similarity 0.998 to McCune-Albright syndrome associated with GNAS.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003002, Breast carcinoma
- HP:0006625, Multifocal breast carcinoma - HP:0003002, Breast carcinoma
- Proximity score 0.501 in interactome to GNAS and phenotypic similarity 0.322 to mouse mutant of GNAS.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0014167, ectopic bone
- HP:0006625, Multifocal breast carcinoma - MP:0014167, ectopic bone
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.006 (p=5.2E-1)
Phenotype Score: 0.501
Variant Score: 0.325
- Transcripts:
- PTGER1:ENST00000292513.4:c.248C>A:p.(Thr83Asn)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- gnomAD_E_AFR: 0.0517%
- gnomAD_E_AMR: 0.0351%
- gnomAD_E_NFE: 0.3572%
- gnomAD_E_SAS: 0.0745%
- gnomAD_G_AFR: 0.0604%
- gnomAD_G_AMR: 0.0789%
- gnomAD_G_NFE: 0.3144%
- gnomAD_G_SAS: 0.0622%
- Transcripts:
- PTGER1:ENST00000292513.4::
- Pathogenicity Data:
- Best Score: 0.106225
- REMM: 0.106
- Frequency Data:
- UK10K: 0.7273%
- gnomAD_G_AFR: 0.1515%
- gnomAD_G_AMR: 0.3303%
- gnomAD_G_NFE: 0.9046%
- gnomAD_G_SAS: 0.7705%
- Phenotypic similarity 0.504 to Intermediate nemaline myopathy associated with TPM3.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0000765, Abnormal thorax morphology
- HP:0006625, Multifocal breast carcinoma - HP:0000765, Abnormal thorax morphology
- Proximity score 0.506 in interactome to DES and phenotypic similarity 0.614 to Scapuloperoneal syndrome, neurogenic, Kaeser type associated with DES.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0000771, Gynecomastia
- HP:0006625, Multifocal breast carcinoma - HP:0000771, Gynecomastia
- Known diseases:
- OMIM:255310 Congenital myopathy 4A, autosomal dominant - autosomal dominant/recessive
- OMIM:609284 Congenital myopathy 4B, autosomal recessive - autosomal dominant/recessive
- ORPHA:171433 Intermediate nemaline myopathy - autosomal dominant/recessive
- ORPHA:171439 Childhood-onset nemaline myopathy - autosomal dominant/recessive
- ORPHA:171881 Cap myopathy - autosomal dominant/recessive
- ORPHA:2020 Congenital fiber-type disproportion myopathy - autosomal dominant/recessive
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.006 (p=5.2E-1)
Phenotype Score: 0.506
Variant Score: 0.320
- Phenotype matches to diseases consistent with this MOI:
- Phenotypic similarity 0.504 to ORPHA:171433 Intermediate nemaline myopathy
- Phenotypic similarity 0.504 to ORPHA:171439 Childhood-onset nemaline myopathy
- Phenotypic similarity 0.458 to ORPHA:171881 Cap myopathy
- Phenotypic similarity 0.444 to OMIM:609284 Congenital myopathy 4B, autosomal recessive
- Phenotypic similarity 0.439 to ORPHA:2020 Congenital fiber-type disproportion myopathy
- Transcripts:
- TPM3:ENST00000651641.1:c.*1471del:p.(=)
- Pathogenicity Data:
- Best Score: 0.679242
- REMM: 0.679
- Frequency Data:
- UK10K: 0.4099%
- gnomAD_E_AFR: 0.1546%
- gnomAD_E_AMR: 0.3016%
- gnomAD_E_NFE: 0.5625%
- gnomAD_E_SAS: 0.1023%
- gnomAD_G_AFR: 0.1035%
- gnomAD_G_AMR: 0.3335%
- gnomAD_G_NFE: 0.5719%
- gnomAD_G_SAS: 0.1036%
- Transcripts:
- TPM3:ENST00000651641.1:c.378-1175_378-1168del:p.(=)
- Pathogenicity Data:
- Best Score: 0.0961972
- REMM: 0.096
- Frequency Data:
- gnomAD_G_AFR: 1.1852%
- gnomAD_G_AMR: 1.5677%
- gnomAD_G_EAS: 1.1166%
- gnomAD_G_NFE: 1.6758%
- gnomAD_G_SAS: 1.7958%
- Phenotypic similarity 0.614 to 46,XY partial gonadal dysgenesis associated with GATA4.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0000771, Gynecomastia
- HP:0006625, Multifocal breast carcinoma - HP:0000771, Gynecomastia
- Phenotypic similarity 0.267 to mouse mutant involving GATA4.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0012061, abnormal diaphragm central tendon morphology
- HP:0006625, Multifocal breast carcinoma - MP:0012061, abnormal diaphragm central tendon morphology
- Proximity score 0.510 in interactome to ZFPM2 and phenotypic similarity 0.614 to 46,XY partial gonadal dysgenesis associated with ZFPM2.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0000771, Gynecomastia
- HP:0006625, Multifocal breast carcinoma - HP:0000771, Gynecomastia
- Known diseases:
- OMIM:187500 Tetralogy of Fallot - autosomal dominant
- OMIM:607941 Atrial septal defect 2 - autosomal dominant
- OMIM:614429 Ventricular septal defect 1 - autosomal dominant
- OMIM:614430 Atrioventricular septal defect 4 - autosomal dominant
- OMIM:615542 ?Testicular anomalies with or without congenital heart disease (unconfirmed)
- ORPHA:251510 46,XY partial gonadal dysgenesis - autosomal dominant
- ORPHA:3303 Tetralogy of Fallot - autosomal dominant
- ORPHA:334 Familial atrial fibrillation - autosomal dominant
- ORPHA:99103 Atrial septal defect, ostium secundum type - autosomal dominant
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.006 (p=5.3E-1)
Phenotype Score: 0.255
Variant Score: 0.598
- Transcripts:
- GATA4:ENST00000532059.6:c.616+2820del:p.(=)
- Pathogenicity Data:
- Best Score: 0.598125
- REMM: 0.598
- Frequency Data:
- No frequency data
AUTOSOMAL_DOMINANT
Exomiser Score: 0.001 (p=7.2E-1)
Phenotype Score: 0.614
Variant Score: 0.004
- Phenotype matches to diseases consistent with this MOI:
- Phenotypic similarity 0.614 to ORPHA:251510 46,XY partial gonadal dysgenesis
- Transcripts:
- GATA4:ENST00000532059.6:c.616+7086T>C:p.(=)
- Pathogenicity Data:
- Best Score: 0.00361111
- REMM: 0.004
- Frequency Data:
- gnomAD_G_SAS: 0.0207%
- Transcripts:
- GATA4:ENST00000532059.6::
- Pathogenicity Data:
- Best Score: 0.876223
- REMM: 0.876
- Frequency Data:
- UK10K: 0.0661%
- gnomAD_G_AFR: 0.0385%
- gnomAD_G_AMR: 0.1829%
- gnomAD_G_NFE: 0.0838%
- gnomAD_G_SAS: 0.0415%
- Transcripts:
- GATA4:ENST00000532059.6:c.616+1761del:p.(=)
- Pathogenicity Data:
- Best Score: 0.390416
- REMM: 0.390
- Frequency Data:
- No frequency data
- Transcripts:
- GATA4:ENST00000532059.6::
- Pathogenicity Data:
- Best Score: 0.244602
- REMM: 0.245
- Frequency Data:
- gnomAD_G_AFR: 0.0503%
- gnomAD_G_AMR: 0.1914%
- gnomAD_G_NFE: 0.1115%
- gnomAD_G_SAS: 0.0874%
- Proximity score 0.501 in interactome to SNAI1 and phenotypic similarity 0.641 to fish mutant of SNAI1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - ZP:0010249, postcranial axial skeleton ossified, abnormal
- HP:0006625, Multifocal breast carcinoma - ZP:0010249, postcranial axial skeleton ossified, abnormal
- Known diseases:
- OMIM:226600 Epidermolysis bullosa dystrophica, autosomal recessive, modifier of (susceptibility)
- OMIM:606963 COPD, rate of decline of lung function in - unknown
- ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form (unconfirmed)
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.005 (p=5.4E-1)
Phenotype Score: 0.501
Variant Score: 0.311
- Transcripts:
- MMP1:ENST00000315274.7:c.913A>G:p.(Thr305Ala)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- UK10K: 0.0926%
- gnomAD_E_AFR: 0.0239%
- gnomAD_E_AMR: 0.0112%
- gnomAD_E_NFE: 0.0675%
- gnomAD_E_SAS: 0.0081%
- gnomAD_G_AFR: 0.0048%
- gnomAD_G_AMR: 0.0132%
- gnomAD_G_NFE: 0.0752%
- gnomAD_G_SAS: 0.0210%
- Transcripts:
- MMP1:ENST00000315274.7:c.499+48G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.0319925
- REMM: 0.032
- Frequency Data:
- gnomAD_E_AFR: 0.3967%
- gnomAD_E_AMR: 0.0255%
- gnomAD_E_EAS: 0.0026%
- gnomAD_E_NFE: 0.0034%
- gnomAD_E_SAS: 0.0037%
- gnomAD_G_AFR: 0.4287%
- gnomAD_G_AMR: 0.0850%
- gnomAD_G_NFE: 0.0074%
AUTOSOMAL_DOMINANT
Exomiser Score: 0.005 (p=5.4E-1)
Phenotype Score: 0.251
Variant Score: 0.592
- Transcripts:
- MMP1:ENST00000315274.7:c.913A>G:p.(Thr305Ala)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- UK10K: 0.0926%
- gnomAD_E_AFR: 0.0239%
- gnomAD_E_AMR: 0.0112%
- gnomAD_E_NFE: 0.0675%
- gnomAD_E_SAS: 0.0081%
- gnomAD_G_AFR: 0.0048%
- gnomAD_G_AMR: 0.0132%
- gnomAD_G_NFE: 0.0752%
- gnomAD_G_SAS: 0.0210%
- Phenotypic similarity 0.251 to mouse mutant involving VHL.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0008254, increased megakaryocyte cell number
- HP:0006625, Multifocal breast carcinoma - MP:0008254, increased megakaryocyte cell number
- Proximity score 0.503 in interactome to PRKN and phenotypic similarity 0.998 to Ovarian cancer, somatic associated with PRKN.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003002, Breast carcinoma
- HP:0006625, Multifocal breast carcinoma - HP:0003002, Breast carcinoma
- Proximity score 0.503 in interactome to PRKN and phenotypic similarity 0.368 to mouse mutant of PRKN.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0000160, kyphosis
- HP:0006625, Multifocal breast carcinoma - MP:0000160, kyphosis
- Known diseases:
- OMIM:144700 Renal cell carcinoma, somatic - unknown
- OMIM:171300 Pheochromocytoma - autosomal dominant
- OMIM:193300 von Hippel-Lindau syndrome - autosomal dominant
- OMIM:263400 Erythrocytosis, familial, 2 - autosomal recessive
- ORPHA:29072 Hereditary pheochromocytoma-paraganglioma - autosomal dominant
- ORPHA:892 Von Hippel-Lindau disease - autosomal dominant
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.005 (p=5.4E-1)
Phenotype Score: 0.503
Variant Score: 0.303
- Transcripts:
- VHL:ENST00000256474.3:c.*2544_*2545del:p.(=)
- Pathogenicity Data:
- Best Score: 0.303312
- REMM: 0.303
- Frequency Data:
- No frequency data
- Proximity score 0.502 in interactome to FGFR2 and phenotypic similarity 0.998 to Saethre-Chotzen syndrome associated with FGFR2.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003002, Breast carcinoma
- HP:0006625, Multifocal breast carcinoma - HP:0003002, Breast carcinoma
- Proximity score 0.502 in interactome to FGFR2 and phenotypic similarity 0.360 to mouse mutant of FGFR2.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0002114, abnormal axial skeleton morphology
- HP:0006625, Multifocal breast carcinoma - MP:0002114, abnormal axial skeleton morphology
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.004 (p=5.6E-1)
Phenotype Score: 0.502
Variant Score: 0.289
- Transcripts:
- CBLC:ENST00000647358.2:c.1030A>G:p.(Met344Val)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- UK10K: 0.8596%
- gnomAD_E_AFR: 0.1255%
- gnomAD_E_AMR: 0.3421%
- gnomAD_E_NFE: 0.8890%
- gnomAD_E_SAS: 1.3021%
- gnomAD_G_AFR: 0.1613%
- gnomAD_G_AMR: 0.3274%
- gnomAD_G_EAS: 0.0194%
- gnomAD_G_NFE: 0.9028%
- gnomAD_G_SAS: 1.4114%
- Pathogenicity Data:
- Best Score: 0.268705
- REMM: 0.269
- Frequency Data:
- gnomAD_G_AFR: 0.0121%
- gnomAD_G_AMR: 0.0197%
- gnomAD_G_EAS: 0.7176%
- gnomAD_G_NFE: 0.0118%
- gnomAD_G_SAS: 0.0208%
- Transcripts:
- CBLC:ENST00000647358.2::
- Pathogenicity Data:
- Best Score: 0.15924
- REMM: 0.159
- Frequency Data:
- gnomAD_G_AFR: 1.0904%
- gnomAD_G_AMR: 1.2733%
- gnomAD_G_EAS: 1.2667%
- gnomAD_G_NFE: 0.9839%
- gnomAD_G_SAS: 1.1285%
- Phenotypic similarity 0.471 to Juberg-Hayward syndrome associated with ESCO2.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0000772, Abnormal rib morphology
- HP:0006625, Multifocal breast carcinoma - HP:0000772, Abnormal rib morphology
- Phenotypic similarity 0.244 to zebrafish mutant involving ESCO2.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - ZP:0001147, mandibular arch skeleton aplastic, abnormal
- HP:0006625, Multifocal breast carcinoma - ZP:0001147, mandibular arch skeleton aplastic, abnormal
- Proximity score 0.501 in interactome to STAG1 and phenotypic similarity 0.607 to Intellectual developmental disorder, autosomal dominant 47 associated with STAG1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0002558, Supernumerary nipple
- HP:0006625, Multifocal breast carcinoma - HP:0002558, Supernumerary nipple
- Proximity score 0.501 in interactome to STAG1 and phenotypic similarity 0.368 to mouse mutant of STAG1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0000160, kyphosis
- HP:0006625, Multifocal breast carcinoma - MP:0000160, kyphosis
- Known diseases:
- OMIM:216100 Juberg-Hayward syndrome - autosomal recessive
- OMIM:268300 Roberts-SC phocomelia syndrome - autosomal recessive
- ORPHA:2319 Juberg-Hayward syndrome - autosomal recessive
- ORPHA:3103 Roberts syndrome - autosomal recessive
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.004 (p=5.6E-1)
Phenotype Score: 0.501
Variant Score: 0.286
- Phenotype matches to diseases consistent with this MOI:
- Phenotypic similarity 0.471 to ORPHA:2319 Juberg-Hayward syndrome
- Transcripts:
- ESCO2:ENST00000305188.13:c.*1868_*1878del:p.(=)
- Pathogenicity Data:
- Best Score: 0.305988
- REMM: 0.306
- Frequency Data:
- No frequency data
- Transcripts:
- ESCO2:ENST00000305188.13:c.*1875_*1878del:p.(=)
- Pathogenicity Data:
- Best Score: 0.265707
- REMM: 0.266
- Frequency Data:
- No frequency data
AUTOSOMAL_DOMINANT
Exomiser Score: 0.000 (p=8.2E-1)
Phenotype Score: 0.251
Variant Score: 0.306
- Transcripts:
- ESCO2:ENST00000305188.13:c.*1868_*1878del:p.(=)
- Pathogenicity Data:
- Best Score: 0.305988
- REMM: 0.306
- Frequency Data:
- No frequency data
- Phenotypic similarity 0.532 to Smith-McCort dysplasia 2 associated with RAB33B.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0001552, Barrel-shaped chest
- HP:0006625, Multifocal breast carcinoma - HP:0001552, Barrel-shaped chest
- Phenotypic similarity 0.306 to mouse mutant involving RAB33B.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0021191, increased bone mineral density of lumbar vertebrae
- HP:0006625, Multifocal breast carcinoma - MP:0021191, increased bone mineral density of lumbar vertebrae
- Proximity score 0.500 in interactome to SEC23B and phenotypic similarity 0.990 to ?Cowden syndrome 7 associated with SEC23B.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003002, Breast carcinoma
- HP:0006625, Multifocal breast carcinoma - HP:0003002, Breast carcinoma
- Proximity score 0.500 in interactome to SEC23B and phenotypic similarity 0.245 to fish mutant of SEC23B.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - ZP:0000916, ventral mandibular arch decreased size, abnormal
- HP:0006625, Multifocal breast carcinoma - ZP:0000916, ventral mandibular arch decreased size, abnormal
- Known diseases:
- OMIM:615222 Smith-McCort dysplasia 2 - autosomal recessive
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.003 (p=5.9E-1)
Phenotype Score: 0.532
Variant Score: 0.224
- Phenotype matches to diseases consistent with this MOI:
- Phenotypic similarity 0.532 to OMIM:615222 Smith-McCort dysplasia 2
- Transcripts:
- RAB33B:ENST00000305626.6::
- Pathogenicity Data:
- Best Score: 0.399943
- REMM: 0.400
- Frequency Data:
- No frequency data
- Transcripts:
- RAB33B:ENST00000305626.6::
- Pathogenicity Data:
- Best Score: 0.0770111
- REMM: 0.077
- Frequency Data:
- UK10K: 0.8331%
- gnomAD_G_AFR: 0.1568%
- gnomAD_G_AMR: 0.4273%
- gnomAD_G_NFE: 1.3073%
- gnomAD_G_SAS: 0.2721%
AUTOSOMAL_DOMINANT
Exomiser Score: 0.001 (p=7.3E-1)
Phenotype Score: 0.250
Variant Score: 0.400
- Transcripts:
- RAB33B:ENST00000305626.6::
- Pathogenicity Data:
- Best Score: 0.399943
- REMM: 0.400
- Frequency Data:
- No frequency data
- Transcripts:
- RAB33B:ENST00000305626.6::
- Pathogenicity Data:
- Best Score: 0.0809988
- REMM: 0.081
- Frequency Data:
- No frequency data
- Proximity score 0.501 in interactome to CACNA1C and phenotypic similarity 0.643 to Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures associated with CACNA1C.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003186, Inverted nipples
- HP:0006625, Multifocal breast carcinoma - HP:0003186, Inverted nipples
- Proximity score 0.501 in interactome to CACNA1C and phenotypic similarity 0.349 to mouse mutant of CACNA1C.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0002759, abnormal caudal vertebrae morphology
- HP:0006625, Multifocal breast carcinoma - MP:0002759, abnormal caudal vertebrae morphology
- Proximity score 0.501 in interactome to CACNA1C and phenotypic similarity 0.255 to fish mutant of CACNA1C.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - ZP:0001052, mandibular arch skeleton morphology, abnormal
- HP:0006625, Multifocal breast carcinoma - ZP:0001052, mandibular arch skeleton morphology, abnormal
- Known diseases:
- OMIM:123320 Creatine phosphokinase, elevated serum - autosomal dominant
- OMIM:192600 Cardiomyopathy, familial hypertrophic - autosomal dominant
- OMIM:606072 Rippling muscle disease 2 - autosomal dominant
- OMIM:611818 Long QT syndrome 9 - autosomal dominant
- OMIM:614321 Myopathy, distal, Tateyama type - autosomal dominant
- ORPHA:101016 Romano-Ward syndrome - autosomal dominant
- ORPHA:206599 Isolated asymptomatic elevation of creatine phosphokinase - autosomal dominant
- ORPHA:488650 Distal myopathy, Tateyama type - autosomal dominant
AUTOSOMAL_DOMINANT
Exomiser Score: 0.003 (p=5.9E-1)
Phenotype Score: 0.501
Variant Score: 0.258
- Transcripts:
- CAV3:ENST00000343849.3::
- Pathogenicity Data:
- Best Score: 0.257562
- REMM: 0.258
- Frequency Data:
- No frequency data
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.001 (p=7.2E-1)
Phenotype Score: 0.251
Variant Score: 0.411
- Transcripts:
- CAV3:ENST00000343849.3:c.233C>T:p.(Thr78Met)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- UK10K: 0.2248%
- gnomAD_E_AFR: 0.3554%
- gnomAD_E_AMR: 0.0939%
- gnomAD_E_EAS: 0.0076%
- gnomAD_E_NFE: 0.2575%
- gnomAD_E_SAS: 0.0638%
- gnomAD_G_AFR: 0.3367%
- gnomAD_G_AMR: 0.1176%
- gnomAD_G_NFE: 0.3293%
- gnomAD_G_SAS: 0.0207%
- Transcripts:
- CAV3:ENST00000343849.3::
- Pathogenicity Data:
- Best Score: 0.257562
- REMM: 0.258
- Frequency Data:
- No frequency data
- Transcripts:
- CAV3:ENST00000343849.3::
- Pathogenicity Data:
- Best Score: 0.002
- REMM: 0.002
- Frequency Data:
- No frequency data
- Transcripts:
- CAV3:ENST00000343849.3::
- Pathogenicity Data:
- Best Score: 0.00563175
- REMM: 0.006
- Frequency Data:
- gnomAD_G_AFR: 0.3658%
- gnomAD_G_AMR: 0.7655%
- gnomAD_G_NFE: 1.8611%
- gnomAD_G_SAS: 1.5340%
- Transcripts:
- CAV3:ENST00000343849.3::
- Pathogenicity Data:
- Best Score: 0.00209286
- REMM: 0.002
- Frequency Data:
- UK10K: 1.6662%
- gnomAD_G_AFR: 0.4092%
- gnomAD_G_AMR: 1.8502%
- gnomAD_G_EAS: 0.0387%
- gnomAD_G_NFE: 1.6750%
- gnomAD_G_SAS: 1.3284%
- Phenotypic similarity 0.246 to zebrafish mutant involving TPP1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - ZP:0001965, mandibular arch skeleton decreased size, abnormal
- HP:0006625, Multifocal breast carcinoma - ZP:0001965, mandibular arch skeleton decreased size, abnormal
- Proximity score 0.505 in interactome to POT1 and phenotypic similarity 0.950 to Familial melanoma associated with POT1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0100013, Neoplasm of the breast
- HP:0006625, Multifocal breast carcinoma - HP:0100013, Neoplasm of the breast
- Known diseases:
- OMIM:204500 Ceroid lipofuscinosis, neuronal, 2 - autosomal recessive
- OMIM:609270 Spinocerebellar ataxia, autosomal recessive 7 - autosomal recessive
- ORPHA:168486 Congenital neuronal ceroid lipofuscinosis - autosomal recessive
- ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis - autosomal recessive
- ORPHA:284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia - autosomal recessive
- ORPHA:79262 Adult neuronal ceroid lipofuscinosis - autosomal dominant/recessive
- ORPHA:79263 Infantile neuronal ceroid lipofuscinosis - autosomal recessive
- ORPHA:79264 Juvenile neuronal ceroid lipofuscinosis - autosomal recessive
AUTOSOMAL_DOMINANT
Exomiser Score: 0.003 (p=6.0E-1)
Phenotype Score: 0.505
Variant Score: 0.249
- Transcripts:
- TPP1:ENST00000299427.12::
- Pathogenicity Data:
- Best Score: 0.25225
- REMM: 0.252
- Frequency Data:
- gnomAD_G_AFR: 0.0386%
- gnomAD_G_AMR: 0.0982%
- gnomAD_G_NFE: 0.0397%
- gnomAD_G_SAS: 0.0829%
- Proximity score 0.503 in interactome to SLC25A46 and phenotypic similarity 0.643 to Neuropathy, hereditary motor and sensory, type VIB associated with SLC25A46.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003186, Inverted nipples
- HP:0006625, Multifocal breast carcinoma - HP:0003186, Inverted nipples
- Known diseases:
- OMIM:604805 Spastic paraplegia 12, autosomal dominant - autosomal dominant
- ORPHA:100993 Autosomal dominant spastic paraplegia type 12 - autosomal dominant
AUTOSOMAL_DOMINANT
Exomiser Score: 0.003 (p=6.0E-1)
Phenotype Score: 0.503
Variant Score: 0.245
- Transcripts:
- RTN2:ENST00000245923.9::
- Pathogenicity Data:
- Best Score: 0.245385
- REMM: 0.245
- Frequency Data:
- No frequency data
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.000 (p=8.5E-1)
Phenotype Score: 0.252
Variant Score: 0.253
- Transcripts:
- RTN2:ENST00000245923.9:c.1033+29G>A:p.(=)
- Pathogenicity Data:
- Best Score: 0.274027
- REMM: 0.274
- Frequency Data:
- UK10K: 0.0529%
- gnomAD_E_AFR: 0.0242%
- gnomAD_E_AMR: 0.2917%
- gnomAD_E_NFE: 0.0846%
- gnomAD_E_SAS: 0.0337%
- gnomAD_G_AFR: 0.0217%
- gnomAD_G_AMR: 0.1895%
- gnomAD_G_NFE: 0.1014%
- gnomAD_G_SAS: 0.0414%
- Transcripts:
- RTN2:ENST00000245923.9::
- Pathogenicity Data:
- Best Score: 0.245385
- REMM: 0.245
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.0243917
- REMM: 0.024
- Frequency Data:
- No frequency data
- Phenotypic similarity 0.321 to mouse mutant involving SNAP29.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0010123, increased bone mineral content
- HP:0006625, Multifocal breast carcinoma - MP:0010123, increased bone mineral content
- Proximity score 0.503 in interactome to VAMP7 and phenotypic similarity 0.614 to 46,XY partial gonadal dysgenesis associated with VAMP7.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0000771, Gynecomastia
- HP:0006625, Multifocal breast carcinoma - HP:0000771, Gynecomastia
- Known diseases:
- OMIM:609528 Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome - autosomal recessive
- ORPHA:66631 CEDNIK syndrome - autosomal recessive
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.003 (p=6.2E-1)
Phenotype Score: 0.503
Variant Score: 0.227
- Transcripts:
- SNAP29:ENST00000215730.12::
- Pathogenicity Data:
- Best Score: 0.289477
- REMM: 0.289
- Frequency Data:
- gnomAD_G_AFR: 0.7016%
- gnomAD_G_AMR: 0.6364%
- gnomAD_G_NFE: 0.8506%
- gnomAD_G_SAS: 0.3155%
- Pathogenicity Data:
- Best Score: 0.217754
- REMM: 0.218
- Frequency Data:
- No frequency data
AUTOSOMAL_DOMINANT
Exomiser Score: 0.000 (p=8.6E-1)
Phenotype Score: 0.251
Variant Score: 0.218
- Pathogenicity Data:
- Best Score: 0.217754
- REMM: 0.218
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.217754
- REMM: 0.218
- Frequency Data:
- No frequency data
- Pathogenicity Data:
- Best Score: 0.146393
- REMM: 0.146
- Frequency Data:
- gnomAD_G_AFR: 0.4214%
- gnomAD_G_AMR: 1.9623%
- gnomAD_G_EAS: 0.4664%
- gnomAD_G_NFE: 0.2528%
- gnomAD_G_SAS: 0.4881%
- Proximity score 0.503 in interactome to FMR1 and phenotypic similarity 0.614 to Xq27.3q28 duplication syndrome associated with FMR1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0000771, Gynecomastia
- HP:0006625, Multifocal breast carcinoma - HP:0000771, Gynecomastia
- Proximity score 0.503 in interactome to FMR1 and phenotypic similarity 0.277 to fish mutant of FMR1.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - ZP:0000122, notochord undulate, abnormal
- HP:0006625, Multifocal breast carcinoma - ZP:0000122, notochord undulate, abnormal
- Known diseases:
- OMIM:616158 Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties - autosomal dominant
- ORPHA:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion (CNV)
- ORPHA:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation - autosomal dominant
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.002 (p=6.7E-1)
Phenotype Score: 0.251
Variant Score: 0.461
- Transcripts:
- PURA:ENST00000331327.5:c.144_146dup:p.(Gly49dup)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- gnomAD_E_AFR: 0.0666%
- gnomAD_E_AMR: 0.0376%
- gnomAD_E_EAS: 0.0391%
- gnomAD_E_NFE: 0.0495%
- gnomAD_E_SAS: 0.0456%
- gnomAD_G_AFR: 0.0426%
- gnomAD_G_AMR: 0.0418%
- gnomAD_G_EAS: 0.1271%
- gnomAD_G_NFE: 0.0584%
- gnomAD_G_SAS: 0.0459%
- Transcripts:
- PURA:ENST00000331327.5::
- Pathogenicity Data:
- Best Score: 0.0876897
- REMM: 0.088
- Frequency Data:
- gnomAD_G_AFR: 0.0048%
- gnomAD_G_AMR: 0.0262%
- gnomAD_G_NFE: 0.0279%
- gnomAD_G_SAS: 0.0207%
AUTOSOMAL_DOMINANT
Exomiser Score: 0.001 (p=7.6E-1)
Phenotype Score: 0.503
Variant Score: 0.087
- Transcripts:
- PURA:ENST00000331327.5::
- Pathogenicity Data:
- Best Score: 0.0876897
- REMM: 0.088
- Frequency Data:
- gnomAD_G_AFR: 0.0048%
- gnomAD_G_AMR: 0.0262%
- gnomAD_G_NFE: 0.0279%
- gnomAD_G_SAS: 0.0207%
- Phenotypic similarity 0.580 to Martsolf syndrome 1 associated with RAB3GAP2.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0004405, Prominent nipples
- HP:0006625, Multifocal breast carcinoma - HP:0004405, Prominent nipples
- Proximity score 0.500 in interactome to CACNA1C and phenotypic similarity 0.643 to Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures associated with CACNA1C.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003186, Inverted nipples
- HP:0006625, Multifocal breast carcinoma - HP:0003186, Inverted nipples
- Proximity score 0.500 in interactome to CACNA1C and phenotypic similarity 0.349 to mouse mutant of CACNA1C.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0002759, abnormal caudal vertebrae morphology
- HP:0006625, Multifocal breast carcinoma - MP:0002759, abnormal caudal vertebrae morphology
- Proximity score 0.500 in interactome to CACNA1C and phenotypic similarity 0.255 to fish mutant of CACNA1C.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - ZP:0001052, mandibular arch skeleton morphology, abnormal
- HP:0006625, Multifocal breast carcinoma - ZP:0001052, mandibular arch skeleton morphology, abnormal
- Known diseases - observed variants incompatible with mode of inheritance:
- OMIM:212720 Martsolf syndrome 1 - autosomal recessive
- OMIM:614225 Warburg micro syndrome 2 - autosomal recessive
- ORPHA:1387 Cataract-intellectual disability-hypogonadism syndrome - autosomal recessive
- ORPHA:2510 Micro syndrome - autosomal recessive
AUTOSOMAL_DOMINANT
Exomiser Score: 0.000 (p=9.3E-1)
Phenotype Score: 0.250
Variant Score: 0.005
- Pathogenicity Data:
- Best Score: 0.00536627
- REMM: 0.005
- Frequency Data:
- No frequency data
- Proximity score 0.502 in interactome to DHX37 and phenotypic similarity 0.614 to 46,XY partial gonadal dysgenesis associated with DHX37.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0000771, Gynecomastia
- HP:0006625, Multifocal breast carcinoma - HP:0000771, Gynecomastia
- Known diseases:
- OMIM:609887 Glaucoma 1, open angle, G - unknown
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.001 (p=7.8E-1)
Phenotype Score: 0.502
Variant Score: 0.065
- Transcripts:
- WDR36:ENST00000513710.4::
- Pathogenicity Data:
- Best Score: 0.657225
- REMM: 0.657
- Frequency Data:
- gnomAD_G_AFR: 1.0185%
- gnomAD_G_AMR: 1.5218%
- gnomAD_G_EAS: 1.0840%
- gnomAD_G_NFE: 1.9559%
- gnomAD_G_SAS: 1.0856%
- Transcripts:
- WDR36:ENST00000513710.4:c.*1741C>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0118909
- REMM: 0.012
- Frequency Data:
- No frequency data
AUTOSOMAL_DOMINANT
Exomiser Score: 0.000 (p=8.3E-1)
Phenotype Score: 0.502
Variant Score: 0.012
- Transcripts:
- WDR36:ENST00000513710.4:c.*1741C>G:p.(=)
- Pathogenicity Data:
- Best Score: 0.0118909
- REMM: 0.012
- Frequency Data:
- No frequency data
- Transcripts:
- WDR36:ENST00000513710.4::
- Pathogenicity Data:
- Best Score: 0.0431393
- REMM: 0.043
- Frequency Data:
- No frequency data
- Transcripts:
- WDR36:ENST00000513710.4::
- Pathogenicity Data:
- Best Score: 0.0361028
- REMM: 0.036
- Frequency Data:
- No frequency data
- Transcripts:
- WDR36:ENST00000513710.4::
- Pathogenicity Data:
- Best Score: 0.0298976
- REMM: 0.030
- Frequency Data:
- No frequency data
- Transcripts:
- WDR36:ENST00000513710.4::
- Pathogenicity Data:
- Best Score: 0.028625
- REMM: 0.029
- Frequency Data:
- No frequency data
- Transcripts:
- WDR36:ENST00000513710.4::
- Pathogenicity Data:
- Best Score: 0.0101417
- REMM: 0.010
- Frequency Data:
- gnomAD_G_AFR: 0.2280%
- gnomAD_G_AMR: 0.6045%
- gnomAD_G_NFE: 0.8859%
- gnomAD_G_SAS: 0.0275%
- Transcripts:
- WDR36:ENST00000513710.4::
- Pathogenicity Data:
- Best Score: 0.00256944
- REMM: 0.003
- Frequency Data:
- No frequency data
- Transcripts:
- WDR36:ENST00000513710.4::
- Pathogenicity Data:
- Best Score: 0.00196667
- REMM: 0.002
- Frequency Data:
- No frequency data
- Transcripts:
- WDR36:ENST00000513710.4::
- Pathogenicity Data:
- Best Score: 0.00196667
- REMM: 0.002
- Frequency Data:
- No frequency data
- Transcripts:
- WDR36:ENST00000513710.4::
- Pathogenicity Data:
- Best Score: 0.00176667
- REMM: 0.002
- Frequency Data:
- No frequency data
- Transcripts:
- WDR36:ENST00000513710.4::
- Pathogenicity Data:
- Best Score: 0.00176667
- REMM: 0.002
- Frequency Data:
- No frequency data
- Transcripts:
- WDR36:ENST00000513710.4::
- Pathogenicity Data:
- Best Score: 9.66667E-4
- REMM: 0.001
- Frequency Data:
- No frequency data
- Transcripts:
- WDR36:ENST00000513710.4::
- Pathogenicity Data:
- Best Score: 6.0E-4
- REMM: 0.001
- Frequency Data:
- gnomAD_G_AFR: 0.5229%
- gnomAD_G_AMR: 0.7520%
- gnomAD_G_NFE: 0.9925%
- gnomAD_G_SAS: 0.1663%
- Phenotypic similarity 0.348 to mouse mutant involving SLX4.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0004174, abnormal spine curvature
- HP:0006625, Multifocal breast carcinoma - MP:0004174, abnormal spine curvature
- Proximity score 0.506 in interactome to TERF2IP and phenotypic similarity 0.950 to Familial melanoma associated with TERF2IP.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0100013, Neoplasm of the breast
- HP:0006625, Multifocal breast carcinoma - HP:0100013, Neoplasm of the breast
- Known diseases:
- OMIM:613951 Fanconi anemia, complementation group P - autosomal recessive
- ORPHA:84 Fanconi anemia - autosomal recessive
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.001 (p=7.9E-1)
Phenotype Score: 0.506
Variant Score: 0.051
- Transcripts:
- SLX4:ENST00000294008.4:c.3189C>T:p.(=)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- UK10K: 0.0397%
- gnomAD_E_AFR: 0.0060%
- gnomAD_E_AMR: 0.0268%
- gnomAD_E_EAS: 0.0050%
- gnomAD_E_NFE: 0.0309%
- gnomAD_E_SAS: 0.0336%
- gnomAD_G_AFR: 0.0144%
- gnomAD_G_AMR: 0.0980%
- gnomAD_G_NFE: 0.0485%
- Transcripts:
- SLX4:ENST00000294008.4:c.1164-582C>T:p.(=)
- Pathogenicity Data:
- Best Score: 0.00247619
- REMM: 0.002
- Frequency Data:
- UK10K: 0.0264%
- gnomAD_G_AFR: 0.0313%
- gnomAD_G_AMR: 0.0980%
- gnomAD_G_NFE: 0.0500%
AUTOSOMAL_DOMINANT
Exomiser Score: 0.000 (p=9.0E-1)
Phenotype Score: 0.253
Variant Score: 0.099
- Transcripts:
- SLX4:ENST00000294008.4:c.3189C>T:p.(=)
- Pathogenicity Data:
- No pathogenicity data
- Frequency Data:
- UK10K: 0.0397%
- gnomAD_E_AFR: 0.0060%
- gnomAD_E_AMR: 0.0268%
- gnomAD_E_EAS: 0.0050%
- gnomAD_E_NFE: 0.0309%
- gnomAD_E_SAS: 0.0336%
- gnomAD_G_AFR: 0.0144%
- gnomAD_G_AMR: 0.0980%
- gnomAD_G_NFE: 0.0485%
- Proximity score 0.504 in interactome to DUSP6 and phenotypic similarity 0.620 to Kallmann syndrome associated with DUSP6.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003187, Breast hypoplasia
- HP:0006625, Multifocal breast carcinoma - HP:0003187, Breast hypoplasia
- Proximity score 0.504 in interactome to DUSP6 and phenotypic similarity 0.324 to mouse mutant of DUSP6.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0000438, abnormal cranium morphology
- HP:0006625, Multifocal breast carcinoma - MP:0000438, abnormal cranium morphology
- Known diseases:
- OMIM:261680 Phosphoenolpyruvate carboxykinase deficiency, cytosolic - autosomal recessive
AUTOSOMAL_RECESSIVE
Exomiser Score: 0.001 (p=7.9E-1)
Phenotype Score: 0.504
Variant Score: 0.049
- Transcripts:
- PCK1:ENST00000319441.6::
- Pathogenicity Data:
- Best Score: 0.0847246
- REMM: 0.085
- Frequency Data:
- No frequency data
- Transcripts:
- PCK1:ENST00000319441.6::
- Pathogenicity Data:
- Best Score: 0.0191063
- REMM: 0.019
- Frequency Data:
- UK10K: 0.8331%
- gnomAD_G_AFR: 0.1708%
- gnomAD_G_AMR: 0.5427%
- gnomAD_G_NFE: 0.9880%
- gnomAD_G_SAS: 1.2023%
AUTOSOMAL_DOMINANT
Exomiser Score: 0.000 (p=9.0E-1)
Phenotype Score: 0.252
Variant Score: 0.085
- Transcripts:
- PCK1:ENST00000319441.6::
- Pathogenicity Data:
- Best Score: 0.0847246
- REMM: 0.085
- Frequency Data:
- No frequency data
- Transcripts:
- PCK1:ENST00000319441.6::
- Pathogenicity Data:
- Best Score: 0.0401397
- REMM: 0.040
- Frequency Data:
- No frequency data
- Transcripts:
- PCK1:ENST00000319441.6::
- Pathogenicity Data:
- Best Score: 4.11111E-4
- REMM: 0.000
- Frequency Data:
- UK10K: 0.3306%
- gnomAD_G_AFR: 0.0724%
- gnomAD_G_AMR: 0.2746%
- gnomAD_G_NFE: 0.3781%
- gnomAD_G_SAS: 0.1039%
- Phenotypic similarity 0.465 to Aspartylglucosaminuria associated with AGA.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0000768, Pectus carinatum
- HP:0006625, Multifocal breast carcinoma - HP:0000768, Pectus carinatum
- Proximity score 0.501 in interactome to ATM and phenotypic similarity 0.998 to Breast cancer, susceptibility to associated with ATM.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - HP:0003002, Breast carcinoma
- HP:0006625, Multifocal breast carcinoma - HP:0003002, Breast carcinoma
- Proximity score 0.501 in interactome to ATM and phenotypic similarity 0.207 to mouse mutant of ATM.
- Best Phenotype Matches:
- HP:0003002, Breast carcinoma - MP:0002145, abnormal T cell differentiation
- HP:0006625, Multifocal breast carcinoma - MP:0002145, abnormal T cell differentiation
- Known diseases - observed variants incompatible with mode of inheritance:
- OMIM:208400 Aspartylglucosaminuria - autosomal recessive
- ORPHA:93 Aspartylglucosaminuria - autosomal recessive
AUTOSOMAL_DOMINANT
Exomiser Score: 0.000 (p=8.7E-1)
Phenotype Score: 0.251
Variant Score: 0.201
- Transcripts:
- AGA:ENST00000264595.7::
- AGA:ENST00000511685.6::
- Pathogenicity Data:
- Best Score: 0.201229
- REMM: 0.201
- Frequency Data:
- No frequency data
Unanalysed Variants
About
The Exomizer is a Java program that functionally annotates variants from whole-exome sequencing data starting from a VCF file (version 4). The functional annotation code is based on Jannovar and uses UCSC KnownGene transcript definitions and hg19 genomic coordinates
Variants are prioritized according to user-defined criteria on variant frequency, pathogenicity, quality, inheritance pattern, and model organism phenotype data. Predicted pathogenicity data was extracted from the dbNSFP resource.
Developed by the Computational Biology and Bioinformatics group at the Institute for Medical Genetics and Human Genetics of the Charité - Universitätsmedizin Berlin, the Mouse Informatics Group at the Sanger Institute and the Smedley group at Queen Mary University of London.
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